A44S (p.Ala44Ser) variant of GJA1 (Gap junction alpha-1 protein)
A44S (p.Ala44Ser) in GJA1 (Gap junction alpha-1 protein) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact in the context of in EKVP3. The record also includes structural context.
A44S (p.Ala44Ser) variant details
- p.Ala44Ser
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- in EKVP3
- Missense
- UniProt: Variant assessed as somatic; moderate impact. (in EKVP3)
- Structural context available