R13L (p.Arg13Leu) variant of KRT9 (Keratin, type I cytoskeletal 9)
R13L (p.Arg13Leu) in KRT9 (Keratin, type I cytoskeletal 9) 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 0.20 / 1. The record also includes population frequency data and structural context.
R13L (p.Arg13Leu) variant details
- p.Arg13Leu
- ExAC rs749091007
- TOPMed rs749091007
- gnomAD rs749091007
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.23
- CADD 7.15
- PolyPhen-2 0.03
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available