G111D (p.Gly111Asp) variant of KRT3 (Keratin, type II cytoskeletal 3)
G111D (p.Gly111Asp) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Corneal dystrophy, Meesmann, 2; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
G111D (p.Gly111Asp) variant details
- p.Gly111Asp
- ExAC rs771174913
- TOPMed rs771174913
- gnomAD rs771174913
- Uncertain significance
- Corneal dystrophy, Meesmann, 2; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.42
- CADD 22.80
- PolyPhen-2 0.96
- SIFT 0.07
- ClinVar: Uncertain significance (Corneal dystrophy, Meesmann, 2; not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available