P70A (p.Pro70Ala) variant of GJB2 (Gap junction beta-2 protein)
P70A (p.Pro70Ala) in GJB2 (Gap junction beta-2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Autosomal recessive nonsyndromic hearing loss 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
P70A (p.Pro70Ala) variant details
- p.Pro70Ala
- rs200023879
- ClinGen CA273831
- ClinVar RCV001895869
- ClinVar RCV005629670
- Pathogenic/Likely pathogenic
- not provided; Autosomal recessive nonsyndromic hearing loss 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.918
- REVEL 0.98
- MetaLR 0.99
- MetaSVM 1.01
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Autosomal recessive nonsyndromic hearing loss 1A)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available
- Cited in: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. (PMID 20301449)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)