R30C (p.Arg30Cys) variant of KRT16 (Keratin, type I cytoskeletal 16)
R30C (p.Arg30Cys) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
R30C (p.Arg30Cys) variant details
- p.Arg30Cys
- ExAC rs752819625
- TOPMed rs752819625
- gnomAD rs752819625
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.38
- CADD 19.90
- PolyPhen-2 0.01
- SIFT 0.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available