Q5R (p.Gln5Arg) variant of KRT4 (Keratin, type II cytoskeletal 4)
Q5R (p.Gln5Arg) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
Q5R (p.Gln5Arg) variant details
- p.Gln5Arg
- ExAC rs776085274
- TOPMed rs776085274
- gnomAD rs776085274
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.23
- CADD 22.70
- PolyPhen-2 0.03
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available