L11F (p.Leu11Phe) variant of GJA1 (Gap junction alpha-1 protein)
L11F (p.Leu11Phe) 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 0.98 / 1. The record also includes published literature and structural context.
L11F (p.Leu11Phe) variant details
- p.Leu11Phe
- rs387906616
- ClinGen CA128546
- NCI-TCGA Cosmic COSV9924
- ClinVar RCV000022517
- Pathogenic
- Oculodentodigital dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.978
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Pathogenic (Oculodentodigital dysplasia)
- EBI: Pathogenic (in ODDD)
- UniProt: Pathogenic (in ODDD)
- Structural context available
- Cited in: A novel GJA1 missense mutation in a Polish child with oculodentodigital dysplasia. (PMID 19638688)
- Cited in: Oculodentodigital dysplasia: new ocular findings and a novel connexin 43 mutation. (PMID 21670345)