V62L (p.Val62Leu) variant of PTH (Parathyroid hormone)
V62L (p.Val62Leu) in PTH (Parathyroid hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
V62L (p.Val62Leu) variant details
- p.Val62Leu
- gnomAD 11-13492569-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- REVEL 0.67
- MetaLR 0.64
- MetaSVM 0.46
- CADD 21.00
- PolyPhen-2 0.38
- SIFT 0.05
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available