A6T (p.Ala6Thr) variant of GJA1 (Gap junction alpha-1 protein)
A6T (p.Ala6Thr) in GJA1 (Gap junction alpha-1 protein) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
A6T (p.Ala6Thr) variant details
- p.Ala6Thr
- rs1169527421
- NCI-TCGA Cosmic COSV5699
- gnomAD rs1169527421
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- REVEL 0.62
- MetaLR 0.93
- MetaSVM 1.07
- CADD 24.60
- PolyPhen-2 0.88
- SIFT 0.49
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available