M1R (p.Met1Arg) variant of GJB2 (Gap junction beta-2 protein)
M1R (p.Met1Arg) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
M1R (p.Met1Arg) variant details
- p.Met1Arg
- rs371086981
- ClinGen CA387462304
- ClinVar RCV000667085
- ClinVar RCV003688870
- Pathogenic
- Nonsyndromic genetic hearing loss
- Missense
- Variant Prioritization Score for Impact Estimate 0.965
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.99
- ClinVar: Pathogenic (Nonsyndromic genetic hearing loss)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. (PMID 20301449)