R886W (p.Arg886Trp) variant of CASR (P41180)
R886W (p.Arg886Trp) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercalcemia; not pro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
R886W (p.Arg886Trp) variant details
- p.Arg886Trp
- rs1559969429
- ClinGen CA354160501
- NCI-TCGA Cosmic COSV5613
- cosmic curated COSV56135
- Pathogenic
- Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercalcemia; not pro
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- CADD 28.40
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Pathogenic (Autosomal dominant hypocalcemia 1; Familial hypocalciuric hyperc)
- EBI: Pathogenic (in HHC1)
- UniProt: Pathogenic (in HHC1)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Molecular genetic analysis of the calcium sensing receptor gene in patients clinically suspected to have familial… (PMID 17698911)
- Cited in: Intermolecular interactions between dimeric calcium-sensing receptor monomers are important for its normal function. (PMID 10077597)