L36P (p.Leu36Pro) variant of GJB2 (Gap junction beta-2 protein)
L36P (p.Leu36Pro) 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 Nonsyndromic genetic hearing loss. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
L36P (p.Leu36Pro) variant details
- p.Leu36Pro
- rs587783644
- ClinGen CA172208
- ClinVar RCV000146004
- ClinVar RCV000518385
- Uncertain significance
- Nonsyndromic genetic hearing loss
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- REVEL 0.94
- MetaLR 0.98
- MetaSVM 1.04
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Nonsyndromic genetic hearing loss)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available