L32R (p.Leu32Arg) variant of CTNNA1 (Catenin alpha-1)
L32R (p.Leu32Arg) in CTNNA1 (Catenin alpha-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
L32R (p.Leu32Arg) variant details
- p.Leu32Arg
- gnomAD 5-138782018-CTT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.706
- CADD 29.80
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available