F612S (p.Phe612Ser) variant of CASR (P41180)
F612S (p.Phe612Ser) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Nephrolithiasis/nephrocalcinosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes published literature and structural context.
F612S (p.Phe612Ser) variant details
- p.Phe612Ser
- rs104893698
- ClinGen CA119493
- ClinVar RCV000008829
- ClinVar RCV004018592
- Likely pathogenic
- Nephrolithiasis/nephrocalcinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- AlphaMissense 0.92
- MetaLR 0.80
- MetaSVM 0.74
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.28
- ClinVar: Likely pathogenic (Nephrolithiasis/nephrocalcinosis)
- 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: Autosomal dominant hypoparathyroidism associated with short stature and premature osteoarthritis. (PMID 10487661)