V28L (p.Val28Leu) variant of PTH (Parathyroid hormone)
V28L (p.Val28Leu) in PTH (Parathyroid hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
V28L (p.Val28Leu) variant details
- p.Val28Leu
- gnomAD 11-13492774-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.16
- MetaLR 0.30
- MetaSVM -0.90
- CADD 1.09
- PolyPhen-2 0.00
- SIFT 0.29
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available