R503P (p.Arg503Pro) variant of KRT3 (Keratin, type II cytoskeletal 3)
R503P (p.Arg503Pro) 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.
R503P (p.Arg503Pro) variant details
- p.Arg503Pro
- rs60410063
- ClinGen CA156180
- ClinVar RCV000057203
- ClinVar RCV000118978
- Pathogenic
- Corneal dystrophy, Meesmann, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.949
- AlphaMissense 0.98
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.86
- ClinVar: Pathogenic (Corneal dystrophy, Meesmann, 2)
- EBI: Pathogenic (in MECD2)
- UniProt: Pathogenic (in MECD2)
- Structural context available
- Cited in: Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann… (PMID 16227835)
- Cited in: Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy. (PMID 9171831)