S43L (p.Ser43Leu) variant of GJA1 (Gap junction alpha-1 protein)
S43L (p.Ser43Leu) 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.
S43L (p.Ser43Leu) variant details
- p.Ser43Leu
- NCI-TCGA Cosmic COSV9924
- Variant assessed as somatic; moderate impact.
- Missense
- MetaLR 0.96
- MetaSVM 1.12
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available