S75C (p.Ser75Cys) variant of ETV5 (ETS translocation variant 5)
S75C (p.Ser75Cys) in ETV5 (ETS translocation variant 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data.
S75C (p.Ser75Cys) variant details
- p.Ser75Cys
- Ensembl rs1714561780
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.35
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 6e-05)