R551K (p.Arg551Lys) variant of CASR (P41180)
R551K (p.Arg551Lys) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercalcemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes published literature and structural context.
R551K (p.Arg551Lys) variant details
- p.Arg551Lys
- rs1060502861
- ClinGen CA16611307
- NCI-TCGA Cosmic COSV5613
- cosmic curated COSV56133
- Likely pathogenic
- Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercalcemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- AlphaMissense 0.90
- MetaLR 0.77
- MetaSVM 0.64
- PolyPhen-2 0.45
- SIFT 0.01
- EVE 0.33
- ClinVar: Likely pathogenic (Autosomal dominant hypocalcemia 1; Familial hypocalciuric hyperc)
- EBI: Pathogenic (in NSHPT)
- UniProt: Pathogenic (in NSHPT)
- Structural context available
- Cited in: Neonatal severe hyperparathyroidism associated with a novel de novo heterozygous R551K inactivating mutation and a… (PMID 17555508)
- Cited in: Structural mechanism of ligand activation in human calcium-sensing receptor. (PMID 27434672)