Q14E (p.Gln14Glu) variant of CDC73 (Parafibromin)
Q14E (p.Gln14Glu) in CDC73 (Parafibromin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
Q14E (p.Gln14Glu) variant details
- p.Gln14Glu
- gnomAD rs1459610351
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.23
- MetaLR 0.28
- MetaSVM -0.74
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.26
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available