M195I (p.Met195Ile) variant of GJB2 (Gap junction beta-2 protein)
M195I (p.Met195Ile) in GJB2 (Gap junction beta-2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
M195I (p.Met195Ile) variant details
- p.Met195Ile
- rs570552952
- ClinGen CA387460847
- cosmic curated COSV67010
- ClinVar RCV000505530
- Conflicting interpretations
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.885
- REVEL 0.93
- MetaLR 0.95
- MetaSVM 1.08
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:STU population (allele frequency 0.015)
- Structural context available
- Cited in: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. (PMID 20301449)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)