FA2H p.Pro242=
c.726C>A · rs2544316520 · VCV2646864
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
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 0.28 | GERP -3.6, phastCons 0.96 |
| Overall | ||
| CADD | 8.403 | PHRED · no single calibrated threshold — expert panels disagree |
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
- FA2H
- Protein
- p.Pro242=
- Coding
- c.726C>A
- MANE Select
- NM_024306
- dbSNP
- rs2544316520
- Type
- single nucleotide variant
- Location
- chr16:74719048 (GRCh38)
- Gene constraint
- LOEUF 0.759 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 85.53
- Residue 242
- the fatty acid hydroxylase domain
Similar variants
- FA2H c.363+2T>C Pathogenic/Likely pathogenic ★★ same type
- FA2H c.506+1G>C Pathogenic/Likely pathogenic ★★ same type
- FA2H c.786+1G>A Pathogenic/Likely pathogenic ★★ same type
- FA2H p.Arg127Ter Pathogenic/Likely pathogenic ★★ same type
- FA2H p.Arg189Ter Pathogenic ★★ same type
- FA2H p.Arg197Ter Pathogenic/Likely pathogenic ★★ same type
- FA2H p.Arg235His Pathogenic/Likely pathogenic ★★ same type
- FA2H p.Arg269His Pathogenic/Likely pathogenic ★★ 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/fa2h-p-pro242 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown