G98V (p.Gly98Val) variant of KRT5 (Keratin, type II cytoskeletal 5)
G98V (p.Gly98Val) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
G98V (p.Gly98Val) variant details
- p.Gly98Val
- 1000Genomes rs534913364
- ExAC rs534913364
- TOPMed rs534913364
- gnomAD rs534913364
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.48
- CADD 24.80
- PolyPhen-2 0.83
- SIFT 0.03
- Most common in the 1KG:GBR population (allele frequency 0.0057)
- Structural context available