T27N (p.Thr27Asn) variant of KRT17 (Keratin, type I cytoskeletal 17)
T27N (p.Thr27Asn) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
T27N (p.Thr27Asn) variant details
- p.Thr27Asn
- 1000Genomes rs554504293
- ExAC rs554504293
- TOPMed rs554504293
- gnomAD rs554504293
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.20
- CADD 16.10
- PolyPhen-2 0.01
- SIFT 0.32
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available