V7A (p.Val7Ala) variant of CDC73 (Parafibromin)
V7A (p.Val7Ala) in CDC73 (Parafibromin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
V7A (p.Val7Ala) variant details
- p.Val7Ala
- gnomAD rs1233590026
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.42
- MetaLR 0.39
- MetaSVM -0.49
- CADD 25.40
- PolyPhen-2 0.03
- SIFT 0.10
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available