M49V (p.Met49Val) variant of PTH (Parathyroid hormone)
M49V (p.Met49Val) in PTH (Parathyroid hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
M49V (p.Met49Val) variant details
- p.Met49Val
- ESP rs147730858
- TOPMed rs147730858
- gnomAD rs147730858
- Missense
- Variant Prioritization Score for Impact Estimate 0.147
- REVEL 0.14
- MetaLR 0.19
- MetaSVM -0.89
- CADD 1.40
- SIFT 1.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available