F3C (p.Phe3Cys) variant of KRT18 (Keratin, type I cytoskeletal 18)
F3C (p.Phe3Cys) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
F3C (p.Phe3Cys) variant details
- p.Phe3Cys
- ExAC rs756991398
- gnomAD rs756991398
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.48
- CADD 23.70
- PolyPhen-2 0.72
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available