L100F (p.Leu100Phe) variant of KRT13 (Keratin, type I cytoskeletal 13)
L100F (p.Leu100Phe) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
L100F (p.Leu100Phe) variant details
- p.Leu100Phe
- TOPMed rs1455583196
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.45
- CADD 23.60
- PolyPhen-2 0.99
- SIFT 0.08
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available