F47L (p.Phe47Leu) variant of KRT10 (Keratin, type I cytoskeletal 10)
F47L (p.Phe47Leu) in KRT10 (Keratin, type I cytoskeletal 10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data.
F47L (p.Phe47Leu) variant details
- p.Phe47Leu
- TOPMed rs1288227754
- gnomAD rs1288227754
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.21
- CADD 17.90
- PolyPhen-2 0.06
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)