R227Q (p.Arg227Gln) variant of CASR (P41180)
R227Q (p.Arg227Gln) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Familial hypocalciuric hypercalcemia 1; Autosomal dominant hypocalcemia 1; Epile. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
R227Q (p.Arg227Gln) variant details
- p.Arg227Gln
- rs28936684
- ClinGen CA212891
- NCI-TCGA Cosmic COSV5613
- cosmic curated COSV56134
- Pathogenic/Likely pathogenic
- Familial hypocalciuric hypercalcemia 1; Autosomal dominant hypocalcemia 1; Epile
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- AlphaMissense 0.09
- MetaLR 0.33
- MetaSVM -0.49
- CADD 23.50
- PolyPhen-2 0.11
- SIFT 0.46
- ClinVar: Pathogenic/Likely pathogenic (Familial hypocalciuric hypercalcemia 1; Autosomal dominant hypoc)
- EBI: Pathogenic (in HHC1)
- UniProt: Pathogenic (in HHC1)
- Population evidence available
- Structural context available
- Cited in: Functional characterization of calcium-sensing receptor codon 227 mutations presenting as either familial (benign)… (PMID 15572418)
- Cited in: Mutations in the human Ca(2+)-sensing-receptor gene that cause familial hypocalciuric hypercalcemia. (PMID 7726161)