R6L (p.Arg6Leu) variant of KRT14 (Keratin, type I cytoskeletal 14)
R6L (p.Arg6Leu) 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 0.55 / 1. The record also includes population frequency data and structural context.
R6L (p.Arg6Leu) variant details
- p.Arg6Leu
- ExAC rs760882737
- TOPMed rs760882737
- gnomAD rs760882737
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- REVEL 0.47
- CADD 25.00
- PolyPhen-2 0.54
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.8e-05)
- Structural context available