R75G (p.Arg75Gly) variant of GJB2 (Gap junction beta-2 protein)
R75G (p.Arg75Gly) 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 Hearing loss. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes structural context.
R75G (p.Arg75Gly) variant details
- p.Arg75Gly
- rs104894402
- ClinGen CA387461587
- ClinVar RCV000678872
- Ensembl rs104894402
- Likely pathogenic
- Hearing loss
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.60
- ClinVar: Likely pathogenic (Hearing loss)
- EBI: Pathogenic (in PPKDFN and DFNA3A)
- UniProt: Pathogenic (in PPKDFN and DFNA3A)
- Structural context available