I2L (p.Ile2Leu) variant of PTH (Parathyroid hormone)
I2L (p.Ile2Leu) 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 and structural context.
I2L (p.Ile2Leu) variant details
- p.Ile2Leu
- Ensembl rs1016031508
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.10
- MetaLR 0.25
- MetaSVM -0.89
- CADD 13.70
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available