G66D (p.Gly66Asp) variant of KRT16 (Keratin, type I cytoskeletal 16)
G66D (p.Gly66Asp) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
G66D (p.Gly66Asp) variant details
- p.Gly66Asp
- TOPMed rs1307719812
- gnomAD rs1307719812
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- REVEL 0.56
- CADD 22.80
- PolyPhen-2 0.89
- SIFT 0.02
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available