S44R (p.Ser44Arg) variant of CTNNA1 (Catenin alpha-1)
S44R (p.Ser44Arg) 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 0.26 / 1. The record also includes structural context.
S44R (p.Ser44Arg) variant details
- p.Ser44Arg
- rs1755325154
- ClinGen CA361477314
- ClinVar RCV001051719
- Ensembl rs1755325154
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- AlphaMissense 0.84
- MetaLR 0.05
- MetaSVM -1.09
- PolyPhen-2 0.06
- SIFT 0.06
- EVE 0.14
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available