E56V (p.Glu56Val) variant of CASR (P41180)
E56V (p.Glu56Val) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercalcemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes structural context.
E56V (p.Glu56Val) variant details
- p.Glu56Val
- rs2107625061
- ClinGen CA354362275
- ClinVar RCV001935908
- Ensembl rs2107625061
- Uncertain significance
- Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercalcemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- AlphaMissense 0.32
- MetaLR 0.75
- MetaSVM 0.54
- PolyPhen-2 1.00
- SIFT 0.20
- MutPred 0.46
- ClinVar: Uncertain significance (Autosomal dominant hypocalcemia 1; Familial hypocalciuric hyperc)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available