H41Y (p.His41Tyr) variant of ETV5 (ETS translocation variant 5)
H41Y (p.His41Tyr) in ETV5 (ETS translocation variant 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data.
H41Y (p.His41Tyr) variant details
- p.His41Tyr
- TOPMed rs1714569636
- gnomAD rs1714569636
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.19
- CADD 24.40
- PolyPhen-2 0.53
- SIFT 0.27
- Most common in the African/African-American population (allele frequency 2.4e-05)