L118V (p.Leu118Val) variant of ETV1 (ETS translocation variant 1)
L118V (p.Leu118Val) in ETV1 (ETS translocation variant 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
L118V (p.Leu118Val) variant details
- p.Leu118Val
- ExAC rs780679319
- TOPMed rs780679319
- gnomAD rs780679319
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.18
- CADD 26.10
- PolyPhen-2 0.84
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available