F3L (p.Phe3Leu) variant of CASR (P41180)
F3L (p.Phe3Leu) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes structural context.
F3L (p.Phe3Leu) variant details
- p.Phe3Leu
- rs764556468
- ClinGen CA354361930
- ClinVar RCV001067696
- Ensembl rs764556468
- Uncertain significance
- Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- AlphaMissense 0.19
- MetaLR 0.24
- MetaSVM -0.84
- PolyPhen-2 0.00
- SIFT 0.40
- MutPred 0.48
- ClinVar: Uncertain significance (Familial hypocalciuric hypercalcemia; Autosomal dominant hypocal)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available