F128L (p.Phe128Leu) variant of CASR (P41180)
F128L (p.Phe128Leu) 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; Nephrol. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes published literature and structural context.
F128L (p.Phe128Leu) variant details
- p.Phe128Leu
- rs104893696
- ClinGen CA119489
- cosmic curated COSV56135
- ClinVar RCV000008827
- Pathogenic
- Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1; Nephrol
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- AlphaMissense 0.74
- MetaLR 0.59
- MetaSVM 0.04
- PolyPhen-2 1.00
- SIFT 0.11
- EVE 0.10
- ClinVar: Pathogenic (Familial hypocalciuric hypercalcemia; Autosomal dominant hypocal)
- EBI: Pathogenic (in HYPOC1)
- UniProt: Pathogenic (in HYPOC1)
- Structural context available
- Cited in: A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor. (PMID 8813042)
- Cited in: Functional characterization of calcium-sensing receptor mutations expressed in human embryonic kidney cells. (PMID 8878438)