L108R (p.Leu108Arg) variant of ETV4 (ETS translocation variant 4)
L108R (p.Leu108Arg) in ETV4 (ETS translocation variant 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data.
L108R (p.Leu108Arg) variant details
- p.Leu108Arg
- gnomAD rs1355522965
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.08
- CADD 23.80
- PolyPhen-2 0.86
- SIFT 0.35
- Most common in the 1KG:CLM population (allele frequency 0.0053)