K16M (p.Lys16Met) variant of GJA5 (Gap junction alpha-5 protein)
K16M (p.Lys16Met) in GJA5 (Gap junction alpha-5 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.
K16M (p.Lys16Met) variant details
- p.Lys16Met
- NCI-TCGA Cosmic COSV9960
- cosmic curated COSV99605
- Variant assessed as somatic; moderate impact.
- Missense
- MetaLR 0.97
- MetaSVM 1.10
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.