V42F (p.Val42Phe) variant of CDC73 (Parafibromin)
V42F (p.Val42Phe) in CDC73 (Parafibromin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
V42F (p.Val42Phe) variant details
- p.Val42Phe
- ExAC rs757088747
- gnomAD rs757088747
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.31
- MetaLR 0.33
- MetaSVM -0.51
- CADD 23.60
- SIFT 0.12
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available