P58A (p.Pro58Ala) variant of GJB2 (Gap junction beta-2 protein)
P58A (p.Pro58Ala) in GJB2 (Gap junction beta-2 protein) is a missense change. The available record places it 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.
P58A (p.Pro58Ala) variant details
- p.Pro58Ala
- rs1064797090
- ClinGen CA16621539
- ClinVar RCV000487476
- Ensembl rs1064797090
- not provided
- 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: not provided (Autosomal dominant nonsyndromic hearing loss 3A)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)