F9L (p.Phe9Leu) variant of KRT18 (Keratin, type I cytoskeletal 18)
F9L (p.Phe9Leu) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
F9L (p.Phe9Leu) variant details
- p.Phe9Leu
- gnomAD 12-52949200-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.30
- CADD 16.00
- PolyPhen-2 0.02
- SIFT 0.11
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available