A31S (p.Ala31Ser) variant of ETV4 (ETS translocation variant 4)
A31S (p.Ala31Ser) in ETV4 (ETS translocation variant 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data.
A31S (p.Ala31Ser) variant details
- p.Ala31Ser
- ExAC rs201270931
- TOPMed rs201270931
- gnomAD rs201270931
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.04
- CADD 20.40
- PolyPhen-2 0.14
- SIFT 0.42
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)