K45Q (p.Lys45Gln) variant of CTNNA1 (Catenin alpha-1)
K45Q (p.Lys45Gln) 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.
K45Q (p.Lys45Gln) variant details
- p.Lys45Gln
- rs2149656124
- ClinGen CA361477316
- ClinVar RCV002020319
- Ensembl rs2149656124
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- AlphaMissense 0.37
- MetaLR 0.32
- MetaSVM -0.62
- PolyPhen-2 0.81
- SIFT 0.42
- EVE 0.10
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available