R12Q (p.Arg12Gln) variant of KRT1 (Keratin, type II cytoskeletal 1)
R12Q (p.Arg12Gln) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
R12Q (p.Arg12Gln) variant details
- p.Arg12Gln
- 1000Genomes rs747243738
- ExAC rs747243738
- TOPMed rs747243738
- gnomAD rs747243738
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.16
- CADD 17.00
- PolyPhen-2 0.00
- SIFT 0.54
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available