P51H (p.Pro51His) variant of CDC73 (Parafibromin)
P51H (p.Pro51His) in CDC73 (Parafibromin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
P51H (p.Pro51His) variant details
- p.Pro51His
- gnomAD 1-193125132-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.707
- REVEL 0.66
- MetaLR 0.70
- MetaSVM 0.47
- CADD 25.70
- PolyPhen-2 0.69
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available