S44N (p.Ser44Asn) variant of CTNNA1 (Catenin alpha-1)
S44N (p.Ser44Asn) in CTNNA1 (Catenin alpha-1) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
S44N (p.Ser44Asn) variant details
- p.Ser44Asn
- Ensembl rs2149656114
- Likely benign
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.09
- CADD 16.80
- PolyPhen-2 0.00
- SIFT 0.85
- ClinVar: Likely benign (Hereditary cancer-predisposing syndrome)
- UniProt: Likely benign
- Population evidence available
- Structural context available