R86C (p.Arg86Cys) variant of KRT1 (Keratin, type II cytoskeletal 1)
R86C (p.Arg86Cys) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. 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.
R86C (p.Arg86Cys) variant details
- p.Arg86Cys
- 1000Genomes rs145256530
- ESP rs145256530
- ExAC rs145256530
- TOPMed rs145256530
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.24
- CADD 4.25
- PolyPhen-2 0.00
- SIFT 0.24
- ClinVar: Uncertain significance (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available