V33L (p.Val33Leu) variant of PTH (Parathyroid hormone)
V33L (p.Val33Leu) in PTH (Parathyroid hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data.
V33L (p.Val33Leu) variant details
- p.Val33Leu
- ESP rs370564990
- ExAC rs370564990
- TOPMed rs370564990
- gnomAD rs370564990
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- REVEL 0.62
- MetaLR 0.83
- MetaSVM 0.80
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00041)