N49S (p.Asn49Ser) variant of CTNNA1 (Catenin alpha-1)
N49S (p.Asn49Ser) 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 0.28 / 1. The record also includes population frequency data and structural context.
N49S (p.Asn49Ser) variant details
- p.Asn49Ser
- rs1308395731
- ClinGen CA361477345
- NCI-TCGA Cosmic COSV5707
- cosmic curated COSV57070
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.07
- CADD 20.30
- PolyPhen-2 0.01
- SIFT 0.61
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available