Q70P (p.Gln70Pro) variant of KRT4 (Keratin, type II cytoskeletal 4)
Q70P (p.Gln70Pro) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
Q70P (p.Gln70Pro) variant details
- p.Gln70Pro
- TOPMed rs1293226865
- gnomAD rs1293226865
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.37
- CADD 22.40
- PolyPhen-2 0.47
- SIFT 0.21
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available