L11H (p.Leu11His) variant of GJA1 (Gap junction alpha-1 protein)
L11H (p.Leu11His) 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, autosomal recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes structural context.
L11H (p.Leu11His) variant details
- p.Leu11His
- rs121912969
- ClinGen CA365557771
- ClinVar RCV003518063
- Pathogenic
- Oculodentodigital dysplasia, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.987
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.97
- ClinVar: Pathogenic (Oculodentodigital dysplasia, autosomal recessive)
- EBI: Pathogenic (in ODDD)
- UniProt: Pathogenic (in ODDD)
- Structural context available