R185Q (p.Arg185Gln) variant of CASR (P41180)
R185Q (p.Arg185Gln) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1; not pro. 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.
R185Q (p.Arg185Gln) variant details
- p.Arg185Gln
- rs104893689
- ClinGen CA119471
- NCI-TCGA Cosmic COSV5613
- cosmic curated COSV56137
- Pathogenic
- Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1; not pro
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- AlphaMissense 0.99
- MetaLR 0.91
- MetaSVM 1.03
- CADD 29.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Familial hypocalciuric hypercalcemia; Autosomal dominant hypocal)
- 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: An association between neonatal severe primary hyperparathyroidism and familial hypocalciuric hypercalcemia in three… (PMID 7054696)
- Cited in: Calcium-ion-sensing cell-surface receptors. (PMID 7791841)