Q4P (p.Gln4Pro) variant of KRT5 (Keratin, type II cytoskeletal 5)
Q4P (p.Gln4Pro) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
Q4P (p.Gln4Pro) variant details
- p.Gln4Pro
- TOPMed rs1473238308
- gnomAD rs1473238308
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.35
- CADD 24.10
- PolyPhen-2 0.05
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available