L11P (p.Leu11Pro) variant of GJA1 (Gap junction alpha-1 protein)
L11P (p.Leu11Pro) 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 0.99 / 1. The record also includes published literature and structural context.
L11P (p.Leu11Pro) variant details
- p.Leu11Pro
- rs121912969
- ClinGen CA127016
- ClinVar RCV000018516
- UniProt VAR 058992
- Pathogenic
- Oculodentodigital dysplasia
- 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)
- EBI: Pathogenic (in ODDD)
- UniProt: Pathogenic (in ODDD)
- Structural context available
- Cited in: A novel GJA 1 mutation in oculo-dento-digital dysplasia with curly hair and hyperkeratosis. (PMID 16709485)
- Cited in: Oculodentodigital dysplasia: new ocular findings and a novel connexin 43 mutation. (PMID 21670345)