V37F (p.Val37Phe) variant of GJB2 (Gap junction beta-2 protein)
V37F (p.Val37Phe) in GJB2 (Gap junction beta-2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Rare genetic deafness; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
V37F (p.Val37Phe) variant details
- p.Val37Phe
- rs72474224
- ClinGen CA273605
- ClinVar RCV000156043
- ClinVar RCV001850145
- Likely pathogenic
- Rare genetic deafness; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- AlphaMissense 0.16
- MetaLR 0.89
- MetaSVM 0.50
- PolyPhen-2 1.00
- SIFT 0.72
- EVE 0.26
- ClinVar: Likely pathogenic (Rare genetic deafness; not provided)
- EBI: Pathogenic (in DFNB1A)
- UniProt: Pathogenic (in DFNB1A)
- Population evidence available
- Structural context available