R18H (p.Arg18His) variant of ETV1 (ETS translocation variant 1)
R18H (p.Arg18His) in ETV1 (ETS translocation variant 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
R18H (p.Arg18His) variant details
- p.Arg18His
- gnomAD rs1338879591
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.15
- CADD 23.70
- PolyPhen-2 0.00
- SIFT 0.17
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available