A13S (p.Ala13Ser) variant of CTNNB1 (Catenin beta-1)
A13S (p.Ala13Ser) in CTNNB1 (Catenin beta-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
A13S (p.Ala13Ser) variant details
- p.Ala13Ser
- Ensembl rs121913394
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.21
- CADD 21.30
- PolyPhen-2 0.02
- SIFT 0.75
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available