F9C (p.Phe9Cys) variant of KRT18 (Keratin, type I cytoskeletal 18)
F9C (p.Phe9Cys) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
F9C (p.Phe9Cys) variant details
- p.Phe9Cys
- gnomAD rs945689746
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.41
- CADD 23.30
- PolyPhen-2 0.86
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available