S44C (p.Ser44Cys) variant of ETV4 (ETS translocation variant 4)
S44C (p.Ser44Cys) in ETV4 (ETS translocation variant 4) 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.
S44C (p.Ser44Cys) variant details
- p.Ser44Cys
- ExAC rs749752498
- gnomAD rs749752498
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.10
- CADD 24.80
- PolyPhen-2 0.69
- SIFT 0.14
- Most common in the African/African-American population (allele frequency 0.00041)