Q100R (p.Gln100Arg) variant of ETV4 (ETS translocation variant 4)
Q100R (p.Gln100Arg) in ETV4 (ETS translocation variant 4) 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.
Q100R (p.Gln100Arg) variant details
- p.Gln100Arg
- Ensembl rs1567710629
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.13
- CADD 20.70
- PolyPhen-2 0.11
- SIFT 0.20
- Most common in the African/African-American population (allele frequency 2.4e-05)