N35Y (p.Asn35Tyr) variant of CDC73 (Parafibromin)
N35Y (p.Asn35Tyr) in CDC73 (Parafibromin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
N35Y (p.Asn35Tyr) variant details
- p.Asn35Tyr
- gnomAD 1-193122303-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- REVEL 0.61
- MetaLR 0.56
- MetaSVM 0.04
- CADD 33.00
- PolyPhen-2 0.07
- SIFT 0.01
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available