R51K (p.Arg51Lys) variant of PTH (Parathyroid hormone)
R51K (p.Arg51Lys) in PTH (Parathyroid hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
R51K (p.Arg51Lys) variant details
- p.Arg51Lys
- gnomAD 11-13492601-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- REVEL 0.74
- MetaLR 0.87
- MetaSVM 0.93
- CADD 22.90
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available