K12Q (p.Lys12Gln) variant of CTNNA1 (Catenin alpha-1)
K12Q (p.Lys12Gln) in CTNNA1 (Catenin alpha-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
K12Q (p.Lys12Gln) variant details
- p.Lys12Gln
- gnomAD 5-138781956-T-TC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.642
- CADD 26.90
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available