K25N (p.Lys25Asn) variant of ETV1 (ETS translocation variant 1)
K25N (p.Lys25Asn) in ETV1 (ETS translocation variant 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
K25N (p.Lys25Asn) variant details
- p.Lys25Asn
- ExAC rs781735914
- TOPMed rs781735914
- gnomAD rs781735914
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.14
- CADD 24.80
- PolyPhen-2 0.19
- SIFT 0.01
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available