K47E (p.Lys47Glu) variant of CASR (P41180)
K47E (p.Lys47Glu) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Familial hypocalciuric hypercalcemia 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes structural context.
K47E (p.Lys47Glu) variant details
- p.Lys47Glu
- rs2107624989
- ClinGen CA354362210
- ClinVar RCV002249328
- Ensembl rs2107624989
- Pathogenic
- Familial hypocalciuric hypercalcemia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- AlphaMissense 0.27
- MetaLR 0.61
- MetaSVM -0.02
- PolyPhen-2 1.00
- SIFT 0.14
- MutPred 0.47
- ClinVar: Pathogenic (Familial hypocalciuric hypercalcemia 1)
- EBI: Pathogenic (in HYPOC1)
- UniProt: Pathogenic (in HYPOC1)
- Structural context available