I82M (p.Ile82Met) variant of GJA1 (Gap junction alpha-1 protein)
I82M (p.Ile82Met) 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 0.89 / 1. The record also includes structural context.
I82M (p.Ile82Met) variant details
- p.Ile82Met
- rs1773901440
- ClinGen CA365558386
- ClinVar RCV001980893
- TOPMed rs1773901440
- Likely pathogenic
- Oculodentodigital dysplasia, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- AlphaMissense 0.72
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.92
- ClinVar: Likely pathogenic (Oculodentodigital dysplasia, autosomal recessive)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available