G19S (p.Gly19Ser) variant of KRT16 (Keratin, type I cytoskeletal 16)
G19S (p.Gly19Ser) in KRT16 (Keratin, type I cytoskeletal 16) 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.
G19S (p.Gly19Ser) variant details
- p.Gly19Ser
- ESP rs373193001
- ExAC rs373193001
- TOPMed rs373193001
- gnomAD rs373193001
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.20
- CADD 10.90
- PolyPhen-2 0.00
- SIFT 0.58
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available