R51T (p.Arg51Thr) variant of PTH (Parathyroid hormone)
R51T (p.Arg51Thr) in PTH (Parathyroid hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
R51T (p.Arg51Thr) variant details
- p.Arg51Thr
- ExAC rs768367860
- gnomAD rs768367860
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- REVEL 0.77
- MetaLR 0.87
- MetaSVM 0.90
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available