R10W (p.Arg10Trp) variant of KRT5 (Keratin, type II cytoskeletal 5)
R10W (p.Arg10Trp) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. Clinical records from ClinVar, EBI, 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 0.28 / 1. The record also includes population frequency data and structural context.
R10W (p.Arg10Trp) variant details
- p.Arg10Trp
- 1000Genomes rs148526538
- ESP rs148526538
- ExAC rs148526538
- TOPMed rs148526538
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.17
- CADD 24.20
- PolyPhen-2 0.25
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)
- Structural context available