K16N (p.Lys16Asn) variant of ETV5 (ETS translocation variant 5)
K16N (p.Lys16Asn) in ETV5 (ETS translocation variant 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data.
K16N (p.Lys16Asn) variant details
- p.Lys16Asn
- ExAC rs767365092
- TOPMed rs767365092
- gnomAD rs767365092
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.09
- CADD 23.40
- PolyPhen-2 0.56
- SIFT 0.14
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)