R9Q (p.Arg9Gln) variant of KRT4 (Keratin, type II cytoskeletal 4)
R9Q (p.Arg9Gln) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
R9Q (p.Arg9Gln) variant details
- p.Arg9Gln
- TOPMed rs950673957
- gnomAD rs950673957
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.31
- CADD 22.90
- PolyPhen-2 0.87
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available