N43D (p.Asn43Asp) variant of CTNNA1 (Catenin alpha-1)
N43D (p.Asn43Asp) in CTNNA1 (Catenin alpha-1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
N43D (p.Asn43Asp) variant details
- p.Asn43Asp
- gnomAD rs1162644114
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.15
- CADD 22.40
- PolyPhen-2 0.11
- SIFT 0.53
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available