H63T (p.His63Thr) variant of PTH (Parathyroid hormone)
H63T (p.His63Thr) in PTH (Parathyroid hormone) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
H63T (p.His63Thr) variant details
- p.His63Thr
- gnomAD 11-13492566-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.448
- CADD 23.70
- Population evidence available
- Structural context available
- Literature evidence available