S18F (p.Ser18Phe) variant of KRT18 (Keratin, type I cytoskeletal 18)
S18F (p.Ser18Phe) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
S18F (p.Ser18Phe) variant details
- p.Ser18Phe
- gnomAD 12-52949226-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- REVEL 0.68
- CADD 24.90
- PolyPhen-2 0.91
- SIFT 0.03
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available