G28V (p.Gly28Val) variant of CDC73 (Parafibromin)
G28V (p.Gly28Val) in CDC73 (Parafibromin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
G28V (p.Gly28Val) variant details
- p.Gly28Val
- gnomAD 1-193122283-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- REVEL 0.93
- MetaLR 0.76
- MetaSVM 0.72
- CADD 28.80
- PolyPhen-2 0.71
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available