V52A (p.Val52Ala) variant of PTH (Parathyroid hormone)
V52A (p.Val52Ala) in PTH (Parathyroid hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
V52A (p.Val52Ala) variant details
- p.Val52Ala
- gnomAD 11-13492598-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.15
- MetaLR 0.40
- MetaSVM -0.58
- CADD 15.70
- PolyPhen-2 0.14
- SIFT 0.31
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Literature evidence available