L108H (p.Leu108His) variant of ETV5 (ETS translocation variant 5)
L108H (p.Leu108His) in ETV5 (ETS translocation variant 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data.
L108H (p.Leu108His) variant details
- p.Leu108His
- TOPMed rs1713923633
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.18
- CADD 25.50
- PolyPhen-2 0.76
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 3e-05)