R86P (p.Arg86Pro) variant of KRT5 (Keratin, type II cytoskeletal 5)
R86P (p.Arg86Pro) in KRT5 (Keratin, type II cytoskeletal 5) 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 0.21 / 1. The record also includes population frequency data and structural context.
R86P (p.Arg86Pro) variant details
- p.Arg86Pro
- ExAC rs762047842
- TOPMed rs762047842
- gnomAD rs762047842
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.11
- CADD 15.80
- PolyPhen-2 0.04
- SIFT 0.23
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available