EP400 p.Ala244=
c.732C>T · rs773293923 · VCV768600
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Common
common (popmax 14.1%, afr) — too common for a highly-penetrant pathogenic allele
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -7.2 | |
| Overall | ||
| CADD | 0.41 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
14.1%
African / African-American · 7,807/55,552 alleles
Filtering AF
13.8%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 13.7%
Overall
2.67%
34,823/1,306,554 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 14.1% | 7 |
| Amishnot grpmax-eligible | 5.98% | 17 |
| East Asian | 4.35% | 23 |
| Middle Eastern | 3.48% | 29 |
| Remaining individualsnot grpmax-eligible | 2.75% | 36 |
| Admixed American | 2.59% | 39 |
| South Asian | 2.27% | 44 |
| European (non-Finnish) | 2.04% | 49 |
| Finnishnot grpmax-eligible | 2.03% | 49 |
| Ashkenazi Jewishnot grpmax-eligible | 1.2% | 83 |
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
- EP400
- Protein
- p.Ala244=
- Coding
- c.732C>T
- MANE Select
- NM_015409
- dbSNP
- rs773293923
- Type
- single nucleotide variant
- Location
- chr12:131961351 (GRCh38)
- Gene constraint
- LOEUF 0.365 · pLI 1.00 (gnomAD)
- Residue 244
- the 'disordered' region
Similar variants
- EP400 p.Thr664Ala Uncertain significance ★★ same type
- EP400 c.1435+8G>A Benign ★★ same type
- EP400 c.7027-9C>T Benign ★★ same type
- EP400 p.Ala146= Likely benign ★★ same type
- EP400 p.Ala1649Thr Benign/Likely benign ★★ same type
- EP400 p.Ala1764= Benign ★★ same type
- EP400 p.Ala2803= Likely benign ★★ same type
- EP400 p.Ala524= Likely benign ★★ 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/ep400-p-ala244 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown