K50E (p.Lys50Glu) variant of CTNNA1 (Catenin alpha-1)
K50E (p.Lys50Glu) 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 Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes structural context.
K50E (p.Lys50Glu) variant details
- p.Lys50Glu
- rs2149656222
- ClinGen CA361477349
- ClinVar RCV001903183
- Ensembl rs2149656222
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- AlphaMissense 0.97
- MetaLR 0.18
- MetaSVM -0.88
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.24
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available