G613E (p.Gly613Glu) variant of CASR (P41180)
G613E (p.Gly613Glu) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1; Neonata. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
G613E (p.Gly613Glu) variant details
- p.Gly613Glu
- rs2473276491
- cosmic curated COSV56137
- ClinGen CA354157559
- ClinVar RCV002895283
- Likely pathogenic
- Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1; Neonata
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Familial hypocalciuric hypercalcemia; Autosomal dominant hypocal)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available