R220W (p.Arg220Trp) variant of CASR (P41180)
R220W (p.Arg220Trp) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Neonatal severe primary hyperparathyroidism; Epilepsy, idiopathic generalized, s. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
R220W (p.Arg220Trp) variant details
- p.Arg220Trp
- rs1482119762
- ClinGen CA354151065
- cosmic curated COSV56136
- ClinVar RCV000498127
- Pathogenic/Likely pathogenic
- Neonatal severe primary hyperparathyroidism; Epilepsy, idiopathic generalized, s
- Missense
- Variant Prioritization Score for Impact Estimate 0.767
- AlphaMissense 0.72
- MetaLR 0.74
- MetaSVM 0.59
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.68
- ClinVar: Pathogenic/Likely pathogenic (Neonatal severe primary hyperparathyroidism; Epilepsy, idiopathi)
- EBI: Pathogenic (in HHC1)
- UniProt: Pathogenic (in HHC1)
- Structural context available
- Cited in: Familial isolated hyperparathyroidism: clinical and genetic characteristics of 36 kindreds. (PMID 11807402)
- Cited in: Calcium-sensing receptor mutations and denaturing high performance liquid chromatography. (PMID 19179454)