I2V (p.Ile2Val) variant of PTH (Parathyroid hormone)
I2V (p.Ile2Val) 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.
I2V (p.Ile2Val) variant details
- p.Ile2Val
- gnomAD 11-13492852-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.14
- MetaLR 0.17
- MetaSVM -0.96
- CADD 11.00
- PolyPhen-2 0.00
- SIFT 0.45
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Literature evidence available