G143S (p.Gly143Ser) variant of GJA1 (Gap junction alpha-1 protein)
G143S (p.Gly143Ser) in GJA1 (Gap junction alpha-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Syndactyly type 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature and structural context.
G143S (p.Gly143Ser) variant details
- p.Gly143Ser
- rs28931600
- ClinGen CA127014
- ClinVar RCV000018508
- UniProt VAR 038361
- Pathogenic
- Syndactyly type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.752
- AlphaMissense 0.70
- MetaLR 0.93
- MetaSVM 1.05
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.25
- ClinVar: Pathogenic (Syndactyly type 3)
- EBI: Pathogenic (in SDTY3)
- UniProt: Pathogenic (in SDTY3)
- Structural context available
- Cited in: Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly. (PMID 14729836)
- Cited in: Oculodentodigital dysplasia and type III syndactyly: separate genetic entities or disease spectrum? (PMID 2157843)