S19I (p.Ser19Ile) variant of KRT6B (Keratin, type II cytoskeletal 6B)
S19I (p.Ser19Ile) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
S19I (p.Ser19Ile) variant details
- p.Ser19Ile
- TOPMed rs1224666539
- gnomAD rs1224666539
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.34
- CADD 19.00
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available