R34L (p.Arg34Leu) variant of KRT9 (Keratin, type I cytoskeletal 9)
R34L (p.Arg34Leu) in KRT9 (Keratin, type I cytoskeletal 9) 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 0.23 / 1. The record also includes population frequency data and structural context.
R34L (p.Arg34Leu) variant details
- p.Arg34Leu
- 1000Genomes rs146238717
- ESP rs146238717
- ExAC rs146238717
- TOPMed rs146238717
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.20
- CADD 13.50
- PolyPhen-2 0.02
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available