L68I (p.Leu68Ile) variant of PTH (Parathyroid hormone)
L68I (p.Leu68Ile) in PTH (Parathyroid hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
L68I (p.Leu68Ile) variant details
- p.Leu68Ile
- gnomAD 11-13492551-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.28
- MetaLR 0.50
- MetaSVM -0.45
- CADD 19.90
- PolyPhen-2 0.47
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available