S48L (p.Ser48Leu) variant of CTNNA1 (Catenin alpha-1)
S48L (p.Ser48Leu) in CTNNA1 (Catenin alpha-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
S48L (p.Ser48Leu) variant details
- p.Ser48Leu
- gnomAD 5-138783213-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.548
- CADD 27.60
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available