T21I (p.Thr21Ile) variant of PTH (Parathyroid hormone)
T21I (p.Thr21Ile) in PTH (Parathyroid hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
T21I (p.Thr21Ile) variant details
- p.Thr21Ile
- Ensembl rs1565290527
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.38
- MetaLR 0.59
- MetaSVM 0.36
- CADD 22.60
- PolyPhen-2 0.44
- SIFT 0.04
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available