F788L (p.Phe788Leu) variant of CASR (P41180)
F788L (p.Phe788Leu) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
F788L (p.Phe788Leu) variant details
- p.Phe788Leu
- rs886041537
- ClinGen CA10602865
- ClinVar RCV000322980
- UniProt VAR 058080
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- MutPred 0.87
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in HYPOC1)
- UniProt: Pathogenic (in HYPOC1)
- Structural context available
- Cited in: Recurrent familial hypocalcemia due to germline mosaicism for an activating mutation of the calcium-sensing receptor… (PMID 12915654)
- Cited in: Autosomal dominant hypoparathyroidism associated with short stature and premature osteoarthritis. (PMID 10487661)