F63L (p.Phe63Leu) variant of KRT12 (Keratin, type I cytoskeletal 12)
F63L (p.Phe63Leu) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
F63L (p.Phe63Leu) variant details
- p.Phe63Leu
- TOPMed rs1597844328
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.21
- CADD 16.20
- PolyPhen-2 0.00
- SIFT 0.46
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available