Q28R (p.Gln28Arg) variant of CTNNB1 (Catenin beta-1)
Q28R (p.Gln28Arg) in CTNNB1 (Catenin beta-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
Q28R (p.Gln28Arg) variant details
- p.Gln28Arg
- cosmic curated COSV62697
- Ensembl rs2125617109
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.20
- CADD 23.80
- PolyPhen-2 0.09
- SIFT 0.04
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available