D65N (p.Asp65Asn) variant of ETV1 (ETS translocation variant 1)
D65N (p.Asp65Asn) in ETV1 (ETS translocation variant 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
D65N (p.Asp65Asn) variant details
- p.Asp65Asn
- gnomAD rs1341827936
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- REVEL 0.43
- CADD 30.00
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available