T38S (p.Thr38Ser) variant of CDC73 (Parafibromin)
T38S (p.Thr38Ser) in CDC73 (Parafibromin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
T38S (p.Thr38Ser) variant details
- p.Thr38Ser
- ExAC rs777541949
- gnomAD rs777541949
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- REVEL 0.82
- MetaLR 0.89
- MetaSVM 0.99
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available