R29L (p.Arg29Leu) variant of KRT5 (Keratin, type II cytoskeletal 5)
R29L (p.Arg29Leu) in KRT5 (Keratin, type II cytoskeletal 5) 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 0.42 / 1. The record also includes population frequency data and structural context.
R29L (p.Arg29Leu) variant details
- p.Arg29Leu
- 1000Genomes rs543574061
- ExAC rs543574061
- TOPMed rs543574061
- gnomAD rs543574061
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.32
- CADD 23.10
- PolyPhen-2 0.03
- SIFT 0.07
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available