Q52R (p.Gln52Arg) variant of ETV1 (ETS translocation variant 1)
Q52R (p.Gln52Arg) in ETV1 (ETS translocation variant 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
Q52R (p.Gln52Arg) variant details
- p.Gln52Arg
- cosmic curated COSV10584
- Ensembl rs945739812
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.41
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available