R30C (p.Arg30Cys) variant of KRT6B (Keratin, type II cytoskeletal 6B)
R30C (p.Arg30Cys) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
R30C (p.Arg30Cys) variant details
- p.Arg30Cys
- ESP rs368410373
- ExAC rs368410373
- TOPMed rs368410373
- gnomAD rs368410373
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.37
- CADD 23.90
- PolyPhen-2 0.33
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available