R55H (p.Arg55His) variant of KRT3 (Keratin, type II cytoskeletal 3)
R55H (p.Arg55His) 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 not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
R55H (p.Arg55His) variant details
- p.Arg55His
- ExAC rs749517076
- TOPMed rs749517076
- gnomAD rs749517076
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.25
- CADD 17.10
- PolyPhen-2 0.00
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available