E498K (p.Glu498Lys) variant of KRT3 (Keratin, type II cytoskeletal 3)
E498K (p.Glu498Lys) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Corneal dystrophy, Meesmann, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes structural context.
E498K (p.Glu498Lys) variant details
- p.Glu498Lys
- rs2121217835
- ClinGen CA384966851
- ClinVar RCV001591798
- Ensembl rs2121217835
- Likely pathogenic
- Corneal dystrophy, Meesmann, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.944
- AlphaMissense 0.91
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.84
- ClinVar: Likely pathogenic (Corneal dystrophy, Meesmann, 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available