G17R (p.Gly17Arg) variant of KRT13 (Keratin, type I cytoskeletal 13)
G17R (p.Gly17Arg) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
G17R (p.Gly17Arg) variant details
- p.Gly17Arg
- ExAC rs770281794
- TOPMed rs770281794
- gnomAD rs770281794
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.21
- CADD 22.70
- PolyPhen-2 0.92
- SIFT 0.15
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available