Q105H (p.Gln105His) variant of ETV1 (ETS translocation variant 1)
Q105H (p.Gln105His) in ETV1 (ETS translocation variant 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
Q105H (p.Gln105His) variant details
- p.Gln105His
- cosmic curated COSV54146
- gnomAD rs1197619453
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.19
- CADD 16.60
- PolyPhen-2 0.03
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available