A2P (p.Ala2Pro) variant of CTNNB1 (Catenin beta-1)
A2P (p.Ala2Pro) in CTNNB1 (Catenin beta-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
A2P (p.Ala2Pro) variant details
- p.Ala2Pro
- gnomAD 3-41224072-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.24
- CADD 24.20
- PolyPhen-2 0.67
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available