I5M (p.Ile5Met) variant of KRT17 (Keratin, type I cytoskeletal 17)
I5M (p.Ile5Met) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
I5M (p.Ile5Met) variant details
- p.Ile5Met
- ExAC rs761633581
- TOPMed rs761633581
- gnomAD rs761633581
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.22
- CADD 23.40
- PolyPhen-2 0.20
- SIFT 0.04
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available