T21R (p.Thr21Arg) variant of PTH (Parathyroid hormone)
T21R (p.Thr21Arg) in PTH (Parathyroid hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
T21R (p.Thr21Arg) variant details
- p.Thr21Arg
- Ensembl rs1565290527
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- REVEL 0.51
- MetaLR 0.62
- MetaSVM 0.36
- CADD 24.90
- PolyPhen-2 0.52
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available