M34L (p.Met34Leu) variant of GJB2 (Gap junction beta-2 protein)
M34L (p.Met34Leu) in GJB2 (Gap junction beta-2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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, published literature, and structural context.
M34L (p.Met34Leu) variant details
- p.Met34Leu
- rs564084861
- ClinGen CA6904321
- ClinVar RCV000991846
- ClinVar RCV001271884
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- REVEL 0.61
- MetaLR 0.80
- MetaSVM 0.49
- CADD 15.80
- PolyPhen-2 0.01
- SIFT 0.53
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance (in DFNB1A)
- UniProt: Uncertain significance (in DFNB1A)
- Most common in the 1KG:KHV population (allele frequency 0.005)
- Structural context available
- Cited in: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. (PMID 20301449)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)