I2T (p.Ile2Thr) variant of PTH (Parathyroid hormone)
I2T (p.Ile2Thr) in PTH (Parathyroid hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
I2T (p.Ile2Thr) variant details
- p.Ile2Thr
- gnomAD 11-13492851-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.22
- MetaLR 0.20
- MetaSVM -0.92
- CADD 17.80
- PolyPhen-2 0.00
- SIFT 0.54
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Literature evidence available