L76P (p.Leu76Pro) variant of GJB2 (Gap junction beta-2 protein)
L76P (p.Leu76Pro) 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 Nonsyndromic genetic hearing loss. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
L76P (p.Leu76Pro) variant details
- p.Leu76Pro
- rs111033361
- ClinGen CA134953
- ClinVar RCV000037824
- ClinVar RCV001252671
- Likely pathogenic
- Nonsyndromic genetic hearing loss
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- REVEL 0.98
- MetaLR 0.98
- MetaSVM 1.05
- CADD 29.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Nonsyndromic genetic hearing loss)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. (PMID 20301449)