D50G (p.Asp50Gly) variant of CASR (P41180)
D50G (p.Asp50Gly) 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 0.67 / 1. The record also includes structural context.
D50G (p.Asp50Gly) variant details
- p.Asp50Gly
- rs1174370617
- ClinGen CA354362236
- ClinVar RCV001896880
- TOPMed rs1174370617
- Uncertain significance
- Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- AlphaMissense 0.39
- MetaLR 0.68
- MetaSVM 0.46
- PolyPhen-2 0.99
- SIFT 0.02
- MutPred 0.35
- ClinVar: Uncertain significance (Familial hypocalciuric hypercalcemia; Autosomal dominant hypocal)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available