K47R (p.Lys47Arg) variant of CDC73 (Parafibromin)
K47R (p.Lys47Arg) in CDC73 (Parafibromin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
K47R (p.Lys47Arg) variant details
- p.Lys47Arg
- gnomAD 1-193125120-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.49
- MetaLR 0.55
- MetaSVM 0.01
- CADD 24.80
- PolyPhen-2 0.46
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available