N39K (p.Asn39Lys) variant of CDC73 (Parafibromin)
N39K (p.Asn39Lys) in CDC73 (Parafibromin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
N39K (p.Asn39Lys) variant details
- p.Asn39Lys
- gnomAD 1-193122317-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- REVEL 0.69
- MetaLR 0.69
- MetaSVM 0.48
- CADD 32.00
- PolyPhen-2 0.76
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available