F183L (p.Phe183Leu) variant of CASR (P41180)
F183L (p.Phe183Leu) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial hyperparathyroidism or Hypocalciuric hypercalcaemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes structural context.
F183L (p.Phe183Leu) variant details
- p.Phe183Leu
- rs779857648
- ClinGen CA354150828
- ClinVar RCV001882944
- ExAC rs779857648
- Likely pathogenic
- Familial hyperparathyroidism or Hypocalciuric hypercalcaemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- AlphaMissense 1.00
- MetaLR 0.78
- MetaSVM 0.69
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.53
- ClinVar: Likely pathogenic (Familial hyperparathyroidism or Hypocalciuric hypercalcaemia)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available