V689M (p.Val689Met) variant of CASR (P41180)
V689M (p.Val689Met) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Epilepsy, idiopathic generalized, susceptibility to, 8; Familial hypocalciuric h. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
V689M (p.Val689Met) variant details
- p.Val689Met
- rs2107649885
- ClinGen CA354158415
- NCI-TCGA Cosmic COSV5613
- cosmic curated COSV56137
- Uncertain significance
- Epilepsy, idiopathic generalized, susceptibility to, 8; Familial hypocalciuric h
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Autosomal dominant hypocalcemia 1; Familial hypocalciuric hyperc)
- EBI: Pathogenic (in NSHPT)
- UniProt: Pathogenic (in NSHPT)
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Cited in: Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications. (PMID 14985373)
- Cited in: Functional characterization of calcium-sensing receptor codon 227 mutations presenting as either familial (benign)… (PMID 15572418)