M1I (p.Met1Ile) variant of GJB2 (Gap junction beta-2 protein)
M1I (p.Met1Ile) in GJB2 (Gap junction beta-2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Nonsyndromic genetic hearing loss. The record also includes structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs2500253846
- ClinGen CA387462302
- ClinVar RCV002966866
- ClinVar RCV003315266
- Pathogenic
- Nonsyndromic genetic hearing loss
- Missense
- ClinVar: Pathogenic (Nonsyndromic genetic hearing loss)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available