P74R (p.Pro74Arg) variant of PTH (Parathyroid hormone)
P74R (p.Pro74Arg) in PTH (Parathyroid hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
P74R (p.Pro74Arg) variant details
- p.Pro74Arg
- gnomAD 11-13492532-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.18
- MetaLR 0.32
- MetaSVM -0.82
- CADD 9.20
- PolyPhen-2 0.19
- SIFT 0.35
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Literature evidence available