S42F (p.Ser42Phe) variant of KRT18 (Keratin, type I cytoskeletal 18)
S42F (p.Ser42Phe) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
S42F (p.Ser42Phe) variant details
- p.Ser42Phe
- gnomAD 12-52949298-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.52
- CADD 23.50
- PolyPhen-2 0.85
- SIFT 0.14
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available