T9N (p.Thr9Asn) variant of KRT17 (Keratin, type I cytoskeletal 17)
T9N (p.Thr9Asn) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
T9N (p.Thr9Asn) variant details
- p.Thr9Asn
- ExAC rs769369981
- TOPMed rs769369981
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.15
- CADD 22.40
- PolyPhen-2 0.03
- SIFT 0.02
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available