T45S (p.Thr45Ser) variant of CDC73 (Parafibromin)
T45S (p.Thr45Ser) in CDC73 (Parafibromin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
T45S (p.Thr45Ser) variant details
- p.Thr45Ser
- gnomAD 1-193125114-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.30
- MetaLR 0.25
- MetaSVM -0.69
- CADD 19.10
- PolyPhen-2 0.01
- SIFT 0.88
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available