K12N (p.Lys12Asn) variant of CTNNA1 (Catenin alpha-1)
K12N (p.Lys12Asn) in CTNNA1 (Catenin alpha-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes structural context.
K12N (p.Lys12Asn) variant details
- p.Lys12Asn
- rs1755159437
- ClinGen CA361477096
- ClinVar RCV003040072
- TOPMed rs1755159437
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- AlphaMissense 0.87
- MetaLR 0.28
- MetaSVM -0.76
- PolyPhen-2 0.69
- SIFT 0.16
- EVE 0.29
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available