N41S (p.Asn41Ser) variant of CTNNA1 (Catenin alpha-1)
N41S (p.Asn41Ser) 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 0.29 / 1. The record also includes structural context.
N41S (p.Asn41Ser) variant details
- p.Asn41Ser
- rs1755322192
- ClinGen CA361477291
- ClinVar RCV001068773
- Ensembl rs1755322192
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- AlphaMissense 0.17
- MetaLR 0.09
- MetaSVM -1.05
- PolyPhen-2 0.02
- SIFT 0.02
- EVE 0.13
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available