R54S (p.Arg54Ser) variant of CTNNA1 (Catenin alpha-1)
R54S (p.Arg54Ser) 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 0.51 / 1. The record also includes population frequency data and structural context.
R54S (p.Arg54Ser) variant details
- p.Arg54Ser
- rs781520852
- ClinGen CA361477377
- ClinVar RCV002046864
- ExAC rs781520852
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.34
- CADD 24.20
- PolyPhen-2 0.06
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in MDPT2)
- UniProt: Uncertain significance (in MDPT2)
- Population evidence available
- Structural context available