A94D (p.Ala94Asp) variant of GJA1 (Gap junction alpha-1 protein)
A94D (p.Ala94Asp) 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 record also includes variant effect predictions and structural context.
A94D (p.Ala94Asp) variant details
- p.Ala94Asp
- NCI-TCGA Cosmic COSV5699
- Variant assessed as somatic; moderate impact.
- Missense
- MetaLR 0.92
- MetaSVM 1.06
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available