L78V (p.Leu78Val) variant of ETV5 (ETS translocation variant 5)
L78V (p.Leu78Val) in ETV5 (ETS translocation variant 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data.
L78V (p.Leu78Val) variant details
- p.Leu78Val
- ESP rs372433151
- ExAC rs372433151
- TOPMed rs372433151
- gnomAD rs372433151
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.10
- CADD 17.60
- PolyPhen-2 0.05
- SIFT 0.11
- Most common in the East Asian population (allele frequency 2.5e-05)