S19A (p.Ser19Ala) variant of ETV5 (ETS translocation variant 5)
S19A (p.Ser19Ala) in ETV5 (ETS translocation variant 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data.
S19A (p.Ser19Ala) variant details
- p.Ser19Ala
- gnomAD rs1714570486
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.02
- CADD 16.70
- Most common in the African/African-American population (allele frequency 2.4e-05)