S24I (p.Ser24Ile) variant of KRT9 (Keratin, type I cytoskeletal 9)
S24I (p.Ser24Ile) in KRT9 (Keratin, type I cytoskeletal 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
S24I (p.Ser24Ile) variant details
- p.Ser24Ile
- ExAC rs750662716
- TOPMed rs750662716
- gnomAD rs750662716
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.21
- CADD 14.20
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available