Q49E (p.Gln49Glu) variant of CASR (P41180)
Q49E (p.Gln49Glu) 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; Nephrol. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes structural context.
Q49E (p.Gln49Glu) variant details
- p.Gln49Glu
- rs1553765913
- ClinGen CA354362225
- ClinVar RCV000639432
- ClinVar RCV004025545
- Uncertain significance
- Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1; Nephrol
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- AlphaMissense 0.08
- MetaLR 0.40
- MetaSVM -0.49
- PolyPhen-2 0.00
- SIFT 0.99
- MutPred 0.33
- ClinVar: Uncertain significance (Familial hypocalciuric hypercalcemia; Autosomal dominant hypocal)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available