Is ABHD11 p.Pro264Arg (c.791C>G) pathogenic?

ABHD11 p.Pro264Arg (c.791C>G) is classified Uncertain significance in ABHD11 (ClinVar, Single submitter, 1 submitter; last evaluated 2024-05-16). AlphaMissense: likely benign (0.0998); Very rare (popmax 0.00133%, afr).

How common is ABHD11 p.Pro264Arg (c.791C>G) in the general population?

ABHD11 p.Pro264Arg (c.791C>G) is very rare (popmax 0.00133%, afr) (gnomAD).

What do computational predictors say about ABHD11 p.Pro264Arg (c.791C>G)?

AlphaMissense predicts likely benign (score 0.0998) — an in-silico prediction, not a clinical call.

ABHD11 p.Pro264Arg

c.791C>G · VCV3317229

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely benign

0.0998 · ACMG-weighted

gnomAD v4.1

Rare

very rare (popmax 0.00133%, afr)

Computational evidence

Protein change
AlphaMissense	0.0998	likely benign
REVEL	0.33	indeterminate
SaProt	—	not scored · why
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 6.6	GERP 5.1, phastCons 1
Regional constraint	o/e 0.90	unconstrained · MANE · 2,208 bp · p 0.044 · regional, not allelic
Overall
CADD	24.1	PHRED · no single calibrated threshold — expert panels disagree

AlphaMissense carries the ACMG weight for missense; REVEL is an independent agreement signal.

⚠ Isoform check: AlphaMissense numbered on a different transcript (AM P273R vs ClinVar P264R) — verify the residue.

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00133% African / African-American · 1/75,006 alleles

Overall 0.000137% 2/1,461,452 alleles · very rare

Ancestry group	Frequency	1 in
African / African-Americangrpmax	0.00133%	75,006
European (non-Finnish)	8.47e-05%	1,180,018

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: ABHD11
Protein: p.Pro264Arg
Coding: c.791C>G
MANE Select: NM_148912
Type: single nucleotide variant
Location: chr7:73736689 (GRCh38)
Gene constraint: LOEUF 1.194 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 88.41

Full ABHD11 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

ABHD11 c.-18G>T Uncertain significance ★ ⚠ same type
ABHD11 p.Ala154Thr Uncertain significance ★ ⚠ same type
ABHD11 p.Ala181Thr Uncertain significance ★ ⚠ same type
ABHD11 p.Ala193Val Uncertain significance ★ ⚠ same type
ABHD11 p.Ala285Thr Uncertain significance ★ same type
ABHD11 p.Ala7Pro Uncertain significance ★ ⚠ same type
ABHD11 p.Ala81Val Uncertain significance ★ ⚠ same type
ABHD11 p.Arg151Cys Uncertain significance ★ ⚠ same type

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/abhd11-p-pro264arg (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown