P193A (p.Pro193Ala) variant of GJA1 (Gap junction alpha-1 protein)
P193A (p.Pro193Ala) 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 Oculodentodigital dysplasia, autosomal recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes structural context.
P193A (p.Pro193Ala) variant details
- p.Pro193Ala
- rs1773907180
- ClinGen CA365559326
- ClinVar RCV001210771
- Ensembl rs1773907180
- Likely pathogenic
- Oculodentodigital dysplasia, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.922
- AlphaMissense 0.90
- MetaLR 0.95
- MetaSVM 1.09
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.82
- ClinVar: Likely pathogenic (Oculodentodigital dysplasia, autosomal recessive)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available