S48P (p.Ser48Pro) variant of CTNNA1 (Catenin alpha-1)
S48P (p.Ser48Pro) 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.
S48P (p.Ser48Pro) variant details
- p.Ser48Pro
- rs1755326643
- ClinGen CA361477335
- ClinVar RCV001243265
- Ensembl rs1755326643
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- AlphaMissense 0.76
- MetaLR 0.17
- MetaSVM -0.86
- PolyPhen-2 0.02
- SIFT 0.07
- EVE 0.68
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available