S44A (p.Ser44Ala) variant of ETV4 (ETS translocation variant 4)
S44A (p.Ser44Ala) in ETV4 (ETS translocation variant 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data.
S44A (p.Ser44Ala) variant details
- p.Ser44Ala
- gnomAD rs1312338893
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.05
- CADD 22.40
- PolyPhen-2 0.04
- SIFT 0.62
- Most common in the HGDP:YAKUT population (allele frequency 0.04)