E127A (p.Glu127Ala) variant of CASR (P41180)
E127A (p.Glu127Ala) 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; Autosomal dominant hypocalcemia 1; Epile. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes published literature and structural context.
E127A (p.Glu127Ala) variant details
- p.Glu127Ala
- rs121909260
- ClinGen CA119473
- ClinVar RCV000008815
- ClinVar RCV000489583
- Pathogenic
- Familial hypocalciuric hypercalcemia 1; Autosomal dominant hypocalcemia 1; Epile
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- AlphaMissense 0.51
- MetaLR 0.57
- MetaSVM 0.10
- PolyPhen-2 1.00
- SIFT 0.05
- EVE 0.12
- ClinVar: Pathogenic (Familial hypocalciuric hypercalcemia 1; Autosomal dominant hypoc)
- EBI: Pathogenic (in HYPOC1)
- UniProt: Pathogenic (in HYPOC1)
- Structural context available
- Cited in: Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation. (PMID 7874174)
- Cited in: Expression and characterization of inactivating and activating mutations in the human Ca2+o-sensing receptor. (PMID 8702647)