P70L (p.Pro70Leu) variant of GJB6 (Gap junction beta-6 protein)
P70L (p.Pro70Leu) in GJB6 (Gap junction beta-6 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; GJB6-related disorder; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and published literature.
P70L (p.Pro70Leu) variant details
- p.Pro70Leu
- rs727505123
- ClinGen CA185121
- ClinVar RCV000156580
- ClinVar RCV000404790
- Uncertain significance
- not specified; GJB6-related disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified; GJB6-related disorder; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0031)
- Cited in: Hidrotic Ectodermal Dysplasia 2. (PMID 20301379)