H194P (p.His194Pro) variant of GJA1 (Gap junction alpha-1 protein)
H194P (p.His194Pro) 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 Oculodentodigital dysplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
H194P (p.His194Pro) variant details
- p.His194Pro
- rs104893966
- ClinGen CA127015
- ClinVar RCV000018515
- UniProt VAR 059008
- Pathogenic
- Oculodentodigital dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.919
- AlphaMissense 0.98
- MetaLR 0.94
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- ClinVar: Pathogenic (Oculodentodigital dysplasia)
- EBI: Pathogenic (in ODDD)
- UniProt: Pathogenic (in ODDD)
- Structural context available
- Cited in: A novel GJA1 mutation causes oculodentodigital dysplasia without syndactyly. (PMID 15637728)
- Cited in: Autosomal dominant simple microphthalmos. (PMID 7815444)