A19D (p.Ala19Asp) variant of GJB1 (Gap junction beta-1 protein)
A19D (p.Ala19Asp) 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 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
A19D (p.Ala19Asp) variant details
- p.Ala19Asp
- rs2519797633
- ClinGen CA413500655
- ClinVar RCV003582855
- Uncertain significance
- Charcot-Marie-Tooth Neuropathy X
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- REVEL 0.84
- CADD 23.10
- PolyPhen-2 0.31
- SIFT 0.00
- ClinVar: Uncertain significance (Charcot-Marie-Tooth Neuropathy X)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)