A45E (p.Ala45Glu) variant of CASR (P41180)
A45E (p.Ala45Glu) 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; Nephrol. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
A45E (p.Ala45Glu) variant details
- p.Ala45Glu
- rs779995504
- ClinGen CA2569424
- ClinVar RCV000472590
- ClinVar RCV001764431
- Uncertain significance
- Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercalcemia; Nephrol
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- AlphaMissense 0.21
- MetaLR 0.56
- MetaSVM 0.07
- CADD 20.80
- PolyPhen-2 0.62
- SIFT 0.17
- ClinVar: Uncertain significance (Autosomal dominant hypocalcemia 1; Familial hypocalciuric hyperc)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available