R18G (p.Arg18Gly) variant of CTNNB1 (Catenin beta-1)
R18G (p.Arg18Gly) in CTNNB1 (Catenin beta-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
R18G (p.Arg18Gly) variant details
- p.Arg18Gly
- gnomAD 3-41224564-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.34
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.36
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available