R56C (p.Arg56Cys) variant of PTH (Parathyroid hormone)
R56C (p.Arg56Cys) in PTH (Parathyroid hormone) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
R56C (p.Arg56Cys) variant details
- p.Arg56Cys
- rs199955107
- ClinGen CA5893182
- NCI-TCGA Cosmic COSV5637
- cosmic curated COSV56378
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.36
- MetaLR 0.57
- MetaSVM -0.26
- CADD 23.10
- PolyPhen-2 0.83
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available