C29R (p.Cys29Arg) variant of KRT17 (Keratin, type I cytoskeletal 17)
C29R (p.Cys29Arg) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
C29R (p.Cys29Arg) variant details
- p.Cys29Arg
- ESP rs371000502
- ExAC rs371000502
- TOPMed rs371000502
- gnomAD rs371000502
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.19
- CADD 18.20
- PolyPhen-2 0.00
- SIFT 0.27
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available