M34R (p.Met34Arg) variant of GJB2 (Gap junction beta-2 protein)
M34R (p.Met34Arg) 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 0.61 / 1. The record also includes population frequency data and structural context.
M34R (p.Met34Arg) variant details
- p.Met34Arg
- rs35887622
- ClinGen CA261633
- ClinVar RCV000037811
- ClinVar RCV001731332
- Conflicting interpretations
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- AlphaMissense 0.44
- MetaLR 0.84
- MetaSVM 0.76
- PolyPhen-2 0.04
- SIFT 0.03
- EVE 0.15
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided)
- EBI: Pathogenic (in DFNB1A)
- UniProt: Pathogenic (in DFNB1A)
- Population evidence available
- Structural context available