P58S (p.Pro58Ser) variant of GJB2 (Gap junction beta-2 protein)
P58S (p.Pro58Ser) 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 Autosomal dominant nonsyndromic hearing loss 3A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
P58S (p.Pro58Ser) variant details
- p.Pro58Ser
- rs1064797090
- ClinGen CA387461710
- ClinVar RCV000623392
- Ensembl rs1064797090
- Likely pathogenic
- Autosomal dominant nonsyndromic hearing loss 3A
- Missense
- Variant Prioritization Score for Impact Estimate 0.899
- AlphaMissense 0.91
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.67
- ClinVar: Likely pathogenic (Autosomal dominant nonsyndromic hearing loss 3A)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)