L66P (p.Leu66Pro) variant of KRT2 (P35908)
L66P (p.Leu66Pro) 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 0.63 / 1. The record also includes population frequency data and structural context.
L66P (p.Leu66Pro) variant details
- p.Leu66Pro
- ExAC rs754762716
- TOPMed rs754762716
- gnomAD rs754762716
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- REVEL 0.63
- CADD 25.50
- PolyPhen-2 0.93
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available