H82R (p.His82Arg) variant of ETV1 (ETS translocation variant 1)
H82R (p.His82Arg) in ETV1 (ETS translocation variant 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
H82R (p.His82Arg) variant details
- p.His82Arg
- cosmic curated COSV54140
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- REVEL 0.66
- CADD 25.60
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available