A176S (p.Ala176Ser) variant of ETFA (P13804)
A176S (p.Ala176Ser) in ETFA (P13804) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
A176S (p.Ala176Ser) variant details
- p.Ala176Ser
- NCI-TCGA TCGA novel
- Ensembl rs2039705106
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.40
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 22.00
- PolyPhen-2 0.10
- SIFT 0.08
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available