Q50K (p.Gln50Lys) variant of CDC73 (Parafibromin)
Q50K (p.Gln50Lys) in CDC73 (Parafibromin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
Q50K (p.Gln50Lys) variant details
- p.Gln50Lys
- gnomAD 1-193125128-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.26
- MetaLR 0.30
- MetaSVM -0.65
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 0.98
- Population evidence available
- Structural context available
- Literature evidence available