L66F (p.Leu66Phe) variant of KRT2 (P35908)
L66F (p.Leu66Phe) in KRT2 (P35908) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
L66F (p.Leu66Phe) variant details
- p.Leu66Phe
- TOPMed rs1331070675
- gnomAD rs1331070675
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.36
- CADD 24.30
- PolyPhen-2 0.78
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available