L36F (p.Leu36Phe) variant of GJB2 (Gap junction beta-2 protein)
L36F (p.Leu36Phe) in GJB2 (Gap junction beta-2 protein) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.
L36F (p.Leu36Phe) variant details
- p.Leu36Phe
- NCI-TCGA Cosmic COSV6701
- cosmic curated COSV67010
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available