K34T (p.Lys34Thr) variant of CDC73 (Parafibromin)
K34T (p.Lys34Thr) in CDC73 (Parafibromin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
K34T (p.Lys34Thr) variant details
- p.Lys34Thr
- gnomAD 1-193122301-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- REVEL 0.71
- MetaLR 0.71
- MetaSVM 0.43
- CADD 28.30
- PolyPhen-2 0.74
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available