V43A (p.Val43Ala) variant of GJB2 (Gap junction beta-2 protein)
V43A (p.Val43Ala) 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; Knuckle pads, deafness AND leukonychia syndrome; Autosomal dominan. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
V43A (p.Val43Ala) variant details
- p.Val43Ala
- rs776267945
- ClinGen CA6904313
- ClinVar RCV003127019
- ClinVar RCV005011230
- Pathogenic/Likely pathogenic
- not provided; Knuckle pads, deafness AND leukonychia syndrome; Autosomal dominan
- Missense
- Variant Prioritization Score for Impact Estimate 0.844
- REVEL 0.94
- MetaLR 0.97
- MetaSVM 1.10
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (not provided; Knuckle pads, deafness AND leukonychia syndrome; A)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. (PMID 20301449)