G19A (p.Gly19Ala) variant of ETV1 (ETS translocation variant 1)
G19A (p.Gly19Ala) in ETV1 (ETS translocation variant 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
G19A (p.Gly19Ala) variant details
- p.Gly19Ala
- ExAC rs776051542
- gnomAD rs776051542
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.26
- CADD 23.60
- PolyPhen-2 0.03
- SIFT 0.30
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available