E59K (p.Glu59Lys) variant of CASR (P41180)
E59K (p.Glu59Lys) 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; not spe. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes structural context.
E59K (p.Glu59Lys) variant details
- p.Glu59Lys
- rs2107625081
- ClinGen CA354362291
- ClinVar RCV001903693
- ClinVar RCV006453797
- Uncertain significance
- Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1; not spe
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- AlphaMissense 0.14
- MetaLR 0.38
- MetaSVM -0.52
- PolyPhen-2 0.00
- SIFT 0.80
- EVE 0.11
- ClinVar: Uncertain significance (Familial hypocalciuric hypercalcemia; Autosomal dominant hypocal)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available