A39V (p.Ala39Val) variant of GJB1 (Gap junction beta-1 protein)
A39V (p.Ala39Val) in GJB1 (Gap junction beta-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Charcot-Marie-Tooth disease; Charcot-Marie-Tooth Neuropathy X; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
A39V (p.Ala39Val) variant details
- p.Ala39Val
- rs786204095
- ClinGen CA334139
- ClinVar RCV000168011
- ClinVar RCV000789271
- Pathogenic/Likely pathogenic
- Charcot-Marie-Tooth disease; Charcot-Marie-Tooth Neuropathy X; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- REVEL 0.94
- CADD 25.90
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Charcot-Marie-Tooth disease; Charcot-Marie-Tooth Neuropathy X; n)
- EBI: Pathogenic (in CMTX1)
- UniProt: Pathogenic (in CMTX1)
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: HMSN and HNPP. Laboratory service provision in the south west of England--two years' experience. (PMID 10586284)
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)