Is MAF p.Asp24Glu (c.72C>G) pathogenic?

MAF p.Asp24Glu (c.72C>G) is classified Uncertain significance in MAF (ClinVar, No assertion criteria, 1 submitter; last evaluated 2024-09-16). AlphaMissense: likely pathogenic (0.9985); Absent from gnomAD v4.1; Associated with MAF-related disorder.

What condition is associated with MAF p.Asp24Glu (c.72C>G)?

MAF p.Asp24Glu (c.72C>G) is associated with MAF-related disorder (ClinVar).

How common is MAF p.Asp24Glu (c.72C>G) in the general population?

MAF p.Asp24Glu (c.72C>G) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about MAF p.Asp24Glu (c.72C>G)?

AlphaMissense predicts likely pathogenic (score 0.9985) — an in-silico prediction, not a clinical call.

MAF p.Asp24Glu

c.72C>G · VCV3346476

Uncertain significance No assertion criteria

Classification

Uncertain significance

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely pathogenic

0.9985 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

2/3 damaging

AlphaMissense, REVEL, SaProt

Conditions

MAF-related disorder

Computational evidence

Protein change
AlphaMissense	0.9985	likely pathogenic · top 10% in MAF
REVEL	0.759	pathogenic-leaning
SaProt	LLR -6.82	tolerated
⇒ AlphaMissense and REVEL call this damaging; SaProt does not.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 11	GERP 2.3, phastCons 1
Regional constraint	o/e 0.87	unconstrained · MANE · 162 bp · p 0.26 · regional, not allelic
Overall
CADD	29.3	PHRED · no single calibrated threshold — expert panels disagree

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: MAF
Protein: p.Asp24Glu
Coding: c.72C>G
MANE Select: NM_005360
Type: single nucleotide variant
Location: chr16:79599831 (GRCh38)
Gene constraint: LOEUF 0.852 · pLI 0.03 (gnomAD)
Structure: AlphaFold pLDDT 62.21

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

Disease context

MAF-related disorder

Similar variants

MAF p.Ser54Trp Likely pathogenic ★ same condition
MAF c.1119-2A>G Uncertain significance ★ same condition
MAF p.Arg288Gly Uncertain significance ⚠ same condition
MAF p.Arg299Gly Uncertain significance ⚠ same condition
MAF p.Cys305Trp Uncertain significance ⚠ same condition
MAF p.Pro200Thr Uncertain significance ⚠ same condition
MAF p.Ala161= Likely benign same condition
MAF p.Ser80= Likely benign same condition

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/maf-p-asp24glu (accessed [today's date]).

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