R20Q (p.Arg20Gln) variant of KRT12 (Keratin, type I cytoskeletal 12)
R20Q (p.Arg20Gln) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
R20Q (p.Arg20Gln) variant details
- p.Arg20Gln
- ExAC rs766699655
- TOPMed rs766699655
- gnomAD rs766699655
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.10
- CADD 10.30
- PolyPhen-2 0.00
- SIFT 0.20
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available