F53L (p.Phe53Leu) variant of KRT2 (P35908)
F53L (p.Phe53Leu) in KRT2 (P35908) 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 0.12 / 1. The record also includes population frequency data and structural context.
F53L (p.Phe53Leu) variant details
- p.Phe53Leu
- 1000Genomes rs142748186
- ESP rs142748186
- ExAC rs142748186
- TOPMed rs142748186
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.123
- REVEL 0.15
- CADD 1.85
- PolyPhen-2 0.01
- SIFT 0.71
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available