V27I (p.Val27Ile) variant of GJB2 (Gap junction beta-2 protein)
V27I (p.Val27Ile) in GJB2 (Gap junction beta-2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
V27I (p.Val27Ile) variant details
- p.Val27Ile
- rs2274084
- ClinGen CA134997
- cosmic curated COSV67010
- ClinVar RCV000029942
- Benign/Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- REVEL 0.57
- MetaLR 0.00
- MetaSVM -1.79
- CADD 23.30
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Benign/Likely benign (not specified)
- EBI: Benign (in dbSNP:rs2274084)
- UniProt: Benign (in dbSNP:rs2274084)
- Most common in the HGDP:COLOMBIAN population (allele frequency 0.67)
- 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: GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation. (PMID 12560944)