R25L (p.Arg25Leu) variant of ETV5 (ETS translocation variant 5)
R25L (p.Arg25Leu) in ETV5 (ETS translocation variant 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data.
R25L (p.Arg25Leu) variant details
- p.Arg25Leu
- cosmic curated COSV60501
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.42
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)