S51F (p.Ser51Phe) variant of KRT18 (Keratin, type I cytoskeletal 18)
S51F (p.Ser51Phe) 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.
S51F (p.Ser51Phe) variant details
- p.Ser51Phe
- gnomAD rs1394324153
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.52
- CADD 19.20
- PolyPhen-2 0.80
- SIFT 0.08
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available