L125P (p.Leu125Pro) variant of CASR (P41180)
L125P (p.Leu125Pro) 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 0.60 / 1. The record also includes published literature and structural context.
L125P (p.Leu125Pro) variant details
- p.Leu125Pro
- rs104893708
- ClinGen CA119525
- ClinVar RCV000008851
- ClinVar RCV000190877
- Pathogenic/Likely pathogenic
- Familial hypocalciuric hypercalcemia 1; Autosomal dominant hypocalcemia 1; Epile
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- AlphaMissense 0.95
- MetaLR 0.70
- MetaSVM 0.52
- PolyPhen-2 1.00
- SIFT 0.04
- EVE 0.11
- ClinVar: Pathogenic/Likely pathogenic (Familial hypocalciuric hypercalcemia 1; Autosomal dominant hypoc)
- EBI: Pathogenic (in HYPOC1)
- UniProt: Pathogenic (in HYPOC1)
- Structural context available
- Cited in: Hydrochlorothiazide effectively reduces urinary calcium excretion in two Japanese patients with gain-of-function… (PMID 12107202)
- Cited in: Functional characterization of a calcium-sensing receptor mutation in severe autosomal dominant hypocalcemia with a… (PMID 12191970)