P51R (p.Pro51Arg) variant of CDC73 (Parafibromin)
P51R (p.Pro51Arg) in CDC73 (Parafibromin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
P51R (p.Pro51Arg) variant details
- p.Pro51Arg
- gnomAD 1-193125132-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- REVEL 0.56
- MetaLR 0.61
- MetaSVM 0.13
- CADD 22.90
- PolyPhen-2 0.35
- SIFT 0.02
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Literature evidence available