E59G (p.Glu59Gly) variant of CASR (P41180)
E59G (p.Glu59Gly) 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 0.62 / 1. The record also includes population frequency data and structural context.
E59G (p.Glu59Gly) variant details
- p.Glu59Gly
- rs2473205852
- ClinGen CA354362295
- ClinVar RCV003100823
- ClinVar RCV004061383
- Uncertain significance
- Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercalcemia; Nephrol
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- CADD 23.40
- PolyPhen-2 0.64
- SIFT 0.22
- 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 8.1e-06)
- Structural context available