G59R (p.Gly59Arg) variant of KRT16 (Keratin, type I cytoskeletal 16)
G59R (p.Gly59Arg) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
G59R (p.Gly59Arg) variant details
- p.Gly59Arg
- ExAC rs765169539
- gnomAD rs765169539
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.21
- CADD 16.20
- PolyPhen-2 0.00
- SIFT 0.13
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available