D124H (p.Asp124His) variant of ETV5 (ETS translocation variant 5)
D124H (p.Asp124His) in ETV5 (ETS translocation variant 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data.
D124H (p.Asp124His) variant details
- p.Asp124His
- cosmic curated COSV10587
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.29
- CADD 25.90
- PolyPhen-2 0.97
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 3.6e-05)