R52K (p.Arg52Lys) variant of CDC73 (Parafibromin)
R52K (p.Arg52Lys) in CDC73 (Parafibromin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
R52K (p.Arg52Lys) variant details
- p.Arg52Lys
- gnomAD rs1396420212
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.40
- MetaLR 0.21
- MetaSVM -0.64
- CADD 20.90
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available