Is ABAT p.Val37Gly (c.110T>G) pathogenic?

ABAT p.Val37Gly (c.110T>G) is classified Uncertain significance in ABAT (ClinVar, Single submitter, 1 submitter; last evaluated 2017-05-02). AlphaMissense: likely benign (0.0926); Absent from gnomAD v4.1.

How common is ABAT p.Val37Gly (c.110T>G) in the general population?

ABAT p.Val37Gly (c.110T>G) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about ABAT p.Val37Gly (c.110T>G)?

AlphaMissense predicts likely benign (score 0.0926) — an in-silico prediction, not a clinical call.

ABAT p.Val37Gly

c.110T>G · rs373781844 · VCV501382

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely benign

0.0926 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

0/2 damaging

AlphaMissense, SaProt · REVEL no call

Computational evidence

Protein change
AlphaMissense	0.0926	likely benign
REVEL	0.351	indeterminate
SaProt	LLR -6.50	tolerated
⇒ AlphaMissense and SaProt both call this tolerated; REVEL makes no call.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 7.8	GERP 2.3, phastCons 0.99
Regional constraint	o/e 0.96	unconstrained · MANE · 46 kb · p 0.32 · regional, not allelic
Overall
CADD	19.23	PHRED · no single calibrated threshold — expert panels disagree

ClinVar classifies this uncertain; the computational predictors unanimously lean tolerated — a triage signal, not a reclassification

AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: ABAT
Protein: p.Val37Gly
Coding: c.110T>G
MANE Select: NM_020686
dbSNP: rs373781844
Type: single nucleotide variant
Location: chr16:8746040 (GRCh38)
Gene constraint: LOEUF 0.871 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 93.91

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

Similar variants

ABAT p.Val37Ile Uncertain significance ★★ ⚠ same residue
ABAT p.Val37Ala Uncertain significance ★ ⚠ same residue
ABAT c.168+1G>A Pathogenic ★★ same type
ABAT p.Arg92Gln Pathogenic/Likely pathogenic ★★ ⚠ same type
ABAT p.Gln8Ter Pathogenic/Likely pathogenic ★★ same type
ABAT p.Leu211Phe Pathogenic/Likely pathogenic ★★ same type
ABAT p.Tyr376Ter Pathogenic/Likely pathogenic ★★ same type
ABAT c.1381+6G>T 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/abat-p-val37gly (accessed [today's date]).

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