H119N (p.His119Asn) variant of ETV4 (ETS translocation variant 4)
H119N (p.His119Asn) in ETV4 (ETS translocation variant 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data.
H119N (p.His119Asn) variant details
- p.His119Asn
- ExAC rs762205128
- gnomAD rs762205128
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.07
- CADD 20.20
- PolyPhen-2 0.14
- SIFT 0.68
- Most common in the 1KG:MXL population (allele frequency 0.0081)