L46M (p.Leu46Met) variant of PTH (Parathyroid hormone)
L46M (p.Leu46Met) 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.
L46M (p.Leu46Met) variant details
- p.Leu46Met
- TOPMed rs923216818
- gnomAD rs923216818
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.33
- MetaLR 0.62
- MetaSVM 0.37
- CADD 23.10
- PolyPhen-2 0.82
- SIFT 0.06
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available