V37I (p.Val37Ile) variant of GJB2 (Gap junction beta-2 protein)
V37I (p.Val37Ile) 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 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
V37I (p.Val37Ile) variant details
- p.Val37Ile
- rs72474224
- ClinGen CA172210
- cosmic curated COSV10972
- ClinVar RCV000018550
- Pathogenic
- Nonsyndromic genetic hearing loss
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- REVEL 0.66
- AlphaMissense 0.16
- MetaLR 0.89
- MetaSVM 0.50
- CADD 21.70
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Nonsyndromic genetic hearing loss)
- EBI: Pathogenic (in DFNB1A)
- UniProt: Pathogenic (in DFNB1A)
- Most common in the HGDP:MIAO population (allele frequency 0.25)
- Structural context available
- Cited in: Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population. (PMID 10607953)
- Cited in: High frequency hearing loss correlated with mutations in the GJB2 gene. (PMID 10830906)