R20Q (p.Arg20Gln) variant of KRT2 (P35908)
R20Q (p.Arg20Gln) in KRT2 (P35908) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. 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.
R20Q (p.Arg20Gln) variant details
- p.Arg20Gln
- TOPMed rs897318947
- gnomAD rs897318947
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.12
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.23
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available