N39D (p.Asn39Asp) variant of CDC73 (Parafibromin)
N39D (p.Asn39Asp) in CDC73 (Parafibromin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
N39D (p.Asn39Asp) variant details
- p.Asn39Asp
- gnomAD 1-193122315-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- REVEL 0.75
- MetaLR 0.76
- MetaSVM 0.60
- CADD 29.40
- PolyPhen-2 0.87
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available