I99V (p.Ile99Val) variant of ETV1 (ETS translocation variant 1)
I99V (p.Ile99Val) in ETV1 (ETS translocation variant 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
I99V (p.Ile99Val) variant details
- p.Ile99Val
- ExAC rs758881224
- gnomAD rs758881224
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.09
- CADD 16.10
- PolyPhen-2 0.01
- SIFT 0.63
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available