G59E (p.Gly59Glu) variant of KRT16 (Keratin, type I cytoskeletal 16)
G59E (p.Gly59Glu) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
G59E (p.Gly59Glu) variant details
- p.Gly59Glu
- TOPMed rs1446312984
- gnomAD rs1446312984
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.40
- CADD 17.40
- PolyPhen-2 0.13
- SIFT 0.06
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available