E53Q (p.Glu53Gln) variant of PTH (Parathyroid hormone)
E53Q (p.Glu53Gln) in PTH (Parathyroid hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
E53Q (p.Glu53Gln) variant details
- p.Glu53Gln
- ExAC rs775025715
- TOPMed rs775025715
- gnomAD rs775025715
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.16
- MetaLR 0.34
- MetaSVM -0.71
- CADD 20.30
- PolyPhen-2 0.05
- SIFT 0.13
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available