D49V (p.Asp49Val) variant of ETV1 (ETS translocation variant 1)
D49V (p.Asp49Val) in ETV1 (ETS translocation variant 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
D49V (p.Asp49Val) variant details
- p.Asp49Val
- ExAC rs773621570
- gnomAD rs773621570
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- REVEL 0.69
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available