N43I (p.Asn43Ile) variant of CTNNA1 (Catenin alpha-1)
N43I (p.Asn43Ile) in CTNNA1 (Catenin alpha-1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
N43I (p.Asn43Ile) variant details
- p.Asn43Ile
- NCI-TCGA Cosmic COSV5708
- cosmic curated COSV57081
- gnomAD rs1580984043
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.16
- CADD 24.20
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available