V52E (p.Val52Glu) variant of PTH (Parathyroid hormone)
V52E (p.Val52Glu) in PTH (Parathyroid hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
V52E (p.Val52Glu) variant details
- p.Val52Glu
- ExAC rs746647774
- gnomAD rs746647774
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.44
- MetaLR 0.39
- MetaSVM -0.52
- CADD 18.10
- PolyPhen-2 0.20
- SIFT 0.05
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available