R41P (p.Arg41Pro) variant of KRT14 (Keratin, type I cytoskeletal 14)
R41P (p.Arg41Pro) in KRT14 (Keratin, type I cytoskeletal 14) 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 0.51 / 1. The record also includes population frequency data and structural context.
R41P (p.Arg41Pro) variant details
- p.Arg41Pro
- 1000Genomes rs566001198
- ExAC rs566001198
- TOPMed rs566001198
- gnomAD rs566001198
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.56
- CADD 22.60
- PolyPhen-2 0.30
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available