Q7R (p.Gln7Arg) variant of KRT16 (Keratin, type I cytoskeletal 16)
Q7R (p.Gln7Arg) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
Q7R (p.Gln7Arg) variant details
- p.Gln7Arg
- TOPMed rs1302621658
- gnomAD rs1302621658
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.24
- CADD 22.90
- PolyPhen-2 0.44
- SIFT 0.14
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available