N49D (p.Asn49Asp) variant of CTNNA1 (Catenin alpha-1)
N49D (p.Asn49Asp) 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 0.31 / 1. The record also includes structural context.
N49D (p.Asn49Asp) variant details
- p.Asn49Asp
- rs1755327366
- ClinGen CA361477341
- ClinVar RCV001324654
- Ensembl rs1755327366
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- AlphaMissense 0.45
- MetaLR 0.10
- MetaSVM -1.04
- PolyPhen-2 0.21
- SIFT 0.13
- EVE 0.18
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available