R227L (p.Arg227Leu) variant of CASR (P41180)
R227L (p.Arg227Leu) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Neonatal severe primary hyperparathyroidism; Familial hypocalciuri. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes published literature and structural context.
R227L (p.Arg227Leu) variant details
- p.Arg227Leu
- rs28936684
- ClinGen CA119475
- ClinVar RCV000008818
- ClinVar RCV001384282
- Pathogenic
- not provided; Neonatal severe primary hyperparathyroidism; Familial hypocalciuri
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- AlphaMissense 0.09
- MetaLR 0.33
- MetaSVM -0.49
- PolyPhen-2 0.11
- SIFT 0.46
- EVE 0.11
- ClinVar: Pathogenic (not provided; Neonatal severe primary hyperparathyroidism; Famil)
- EBI: Pathogenic (in NSHPT)
- UniProt: Pathogenic (in NSHPT)
- Structural context available
- Cited in: Functional characterization of calcium-sensing receptor codon 227 mutations presenting as either familial (benign)… (PMID 15572418)
- Cited in: Structural mechanism of ligand activation in human calcium-sensing receptor. (PMID 27434672)