G6A (p.Gly6Ala) variant of KCNH2 (hERG)
G6A (p.Gly6Ala) in KCNH2 (hERG) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes experimental measurements and structural context.
G6A (p.Gly6Ala) variant details
- p.Gly6Ala
- NCI-TCGA Cosmic COSV5121
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 114