R886P (p.Arg886Pro) variant of CASR (P41180)
R886P (p.Arg886Pro) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Familial hypocalciuric hypercalcemia 1; Familial hypocalciuric hyp. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
R886P (p.Arg886Pro) variant details
- p.Arg886Pro
- rs1057520791
- ClinGen CA16604355
- ClinVar RCV000443461
- ClinVar RCV000664400
- Pathogenic
- not provided; Familial hypocalciuric hypercalcemia 1; Familial hypocalciuric hyp
- Missense
- Variant Prioritization Score for Impact Estimate 0.806
- CADD 29.10
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Familial hypocalciuric hypercalcemia 1; Familial h)
- EBI: Pathogenic (in HHC1)
- UniProt: Pathogenic (in HHC1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Familial isolated hyperparathyroidism: clinical and genetic characteristics of 36 kindreds. (PMID 11807402)
- Cited in: Calcium sensing receptor mutations implicated in pancreatitis and idiopathic epilepsy syndrome disrupt an arginine-rich… (PMID 20798521)