N15K (p.Asn15Lys) variant of ETV1 (ETS translocation variant 1)
N15K (p.Asn15Lys) in ETV1 (ETS translocation variant 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
N15K (p.Asn15Lys) variant details
- p.Asn15Lys
- 1000Genomes rs373945413
- ESP rs373945413
- ExAC rs373945413
- TOPMed rs373945413
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.11
- CADD 19.40
- PolyPhen-2 0.01
- SIFT 0.66
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available