R45L (p.Arg45Leu) variant of KRT2 (P35908)
R45L (p.Arg45Leu) in KRT2 (P35908) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
R45L (p.Arg45Leu) variant details
- p.Arg45Leu
- 1000Genomes rs149447253
- ESP rs149447253
- ExAC rs149447253
- TOPMed rs149447253
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.41
- CADD 21.90
- PolyPhen-2 0.02
- SIFT 0.01
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available