L132P (p.Leu132Pro) variant of KRT12 (Keratin, type I cytoskeletal 12)
L132P (p.Leu132Pro) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Corneal dystrophy, Meesmann, 1. The record also includes published literature and structural context.
L132P (p.Leu132Pro) variant details
- p.Leu132Pro
- rs886038212
- ClinGen CA10586701
- ClinVar RCV000252858
- UniProt VAR 072070
- Pathogenic
- Corneal dystrophy, Meesmann, 1
- Missense
- ClinVar: Pathogenic (Corneal dystrophy, Meesmann, 1)
- EBI: Pathogenic (in MECD1)
- UniProt: Pathogenic (in MECD1)
- Structural context available
- Cited in: Development of allele-specific therapeutic siRNA in Meesmann epithelial corneal dystrophy. (PMID 22174841)
- Cited in: Severe Meesmann's epithelial corneal dystrophy phenotype due to a missense mutation in the helix-initiation motif of… (PMID 23222558)