S44I (p.Ser44Ile) variant of CTNNA1 (Catenin alpha-1)
S44I (p.Ser44Ile) in CTNNA1 (Catenin alpha-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
S44I (p.Ser44Ile) variant details
- p.Ser44Ile
- gnomAD 5-138783198-A-AAT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.649
- CADD 28.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available