E498V (p.Glu498Val) variant of KRT3 (Keratin, type II cytoskeletal 3)
E498V (p.Glu498Val) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Corneal dystrophy, Meesmann, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
E498V (p.Glu498Val) variant details
- p.Glu498Val
- rs267607431
- ClinGen CA156181
- ClinVar RCV000057202
- ClinVar RCV000118979
- Pathogenic
- Corneal dystrophy, Meesmann, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.952
- AlphaMissense 0.96
- MetaLR 0.97
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.82
- ClinVar: Pathogenic (Corneal dystrophy, Meesmann, 2)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Genetics of Meesmann corneal dystrophy: a novel mutation in the keratin 3 gene in an asymptomatic family suggests… (PMID 18806880)