R56H (p.Arg56His) variant of PTH (Parathyroid hormone)
R56H (p.Arg56His) in PTH (Parathyroid hormone) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hypoparathyroidism, familial isolated 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
R56H (p.Arg56His) variant details
- p.Arg56His
- cosmic curated COSV56378
- ExAC rs778737005
- gnomAD rs778737005
- Uncertain significance
- Hypoparathyroidism, familial isolated 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.36
- MetaLR 0.55
- MetaSVM -0.37
- CADD 22.80
- PolyPhen-2 0.83
- SIFT 0.03
- ClinVar: Uncertain significance (Hypoparathyroidism, familial isolated 1)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available