W25C (p.Trp25Cys) variant of GJA1 (Gap junction alpha-1 protein)
W25C (p.Trp25Cys) in GJA1 (Gap junction alpha-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
W25C (p.Trp25Cys) variant details
- p.Trp25Cys
- rs1773898476
- ClinGen CA365557864
- ClinVar RCV001267462
- ClinVar RCV001268323
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.985
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)