A39T (p.Ala39Thr) variant of GJB1 (Gap junction beta-1 protein)
A39T (p.Ala39Thr) in GJB1 (Gap junction beta-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Charcot-Marie-Tooth Neuropathy X. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
A39T (p.Ala39Thr) variant details
- p.Ala39Thr
- rs1602348769
- ClinGen CA413500977
- ClinVar RCV003742104
- Uncertain significance
- Charcot-Marie-Tooth Neuropathy X
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- REVEL 0.87
- CADD 24.60
- PolyPhen-2 0.96
- SIFT 0.11
- ClinVar: Uncertain significance (Charcot-Marie-Tooth Neuropathy X)
- EBI: Variant of uncertain significance (in CMTX1)
- UniProt: Uncertain significance (in CMTX1)
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)