D131N (p.Asp131Asn) variant of ETV4 (ETS translocation variant 4)
D131N (p.Asp131Asn) in ETV4 (ETS translocation variant 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data.
D131N (p.Asp131Asn) variant details
- p.Asp131Asn
- ExAC rs760204430
- gnomAD rs760204430
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.17
- CADD 26.70
- PolyPhen-2 0.46
- SIFT 0.03
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)