R6P (p.Arg6Pro) variant of KRT14 (Keratin, type I cytoskeletal 14)
R6P (p.Arg6Pro) 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 0.57 / 1. The record also includes population frequency data and structural context.
R6P (p.Arg6Pro) variant details
- p.Arg6Pro
- ExAC rs760882737
- TOPMed rs760882737
- gnomAD rs760882737
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- REVEL 0.50
- CADD 23.90
- PolyPhen-2 0.94
- SIFT 0.31
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available