I12T (p.Ile12Thr) variant of PTH (Parathyroid hormone)
I12T (p.Ile12Thr) in PTH (Parathyroid hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
I12T (p.Ile12Thr) variant details
- p.Ile12Thr
- ExAC rs779984006
- gnomAD rs779984006
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.48
- MetaLR 0.51
- MetaSVM -0.24
- CADD 22.80
- PolyPhen-2 0.08
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available