G38A (p.Gly38Ala) variant of GJA1 (Gap junction alpha-1 protein)
G38A (p.Gly38Ala) in GJA1 (Gap junction alpha-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes published literature and structural context.
G38A (p.Gly38Ala) variant details
- p.Gly38Ala
- rs1554200990
- ClinGen CA365557940
- ClinVar RCV000623295
- Ensembl rs1554200990
- Likely pathogenic
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- AlphaMissense 0.67
- MetaLR 0.93
- MetaSVM 1.07
- PolyPhen-2 0.93
- SIFT 0.01
- EVE 0.32
- ClinVar: Likely pathogenic (Inborn genetic diseases)
- EBI: Likely pathogenic
- UniProt: Likely 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)