R150L (p.Arg150Leu) variant of KRT13 (Keratin, type I cytoskeletal 13)
R150L (p.Arg150Leu) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
R150L (p.Arg150Leu) variant details
- p.Arg150Leu
- 1000Genomes rs548070268
- ExAC rs548070268
- TOPMed rs548070268
- gnomAD rs548070268
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.42
- CADD 20.40
- PolyPhen-2 0.22
- SIFT 0.03
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available