S18T (p.Ser18Thr) variant of KRT18 (Keratin, type I cytoskeletal 18)
S18T (p.Ser18Thr) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
S18T (p.Ser18Thr) variant details
- p.Ser18Thr
- TOPMed rs1479948631
- gnomAD rs1479948631
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.56
- CADD 22.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available