K29E (p.Lys29Glu) variant of CASR (P41180)
K29E (p.Lys29Glu) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Bartter syndrome with hypocalcemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes published literature and structural context.
K29E (p.Lys29Glu) variant details
- p.Lys29Glu
- rs397514729
- ClinGen CA144613
- ClinVar RCV000054483
- Ensembl rs397514729
- Pathogenic
- Bartter syndrome with hypocalcemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- AlphaMissense 0.13
- MetaLR 0.42
- MetaSVM -0.31
- PolyPhen-2 0.84
- SIFT 0.34
- EVE 0.08
- ClinVar: Pathogenic (Bartter syndrome with hypocalcemia)
- EBI: Pathogenic (in HYPOC1)
- UniProt: Pathogenic (in HYPOC1)
- Structural context available
- Cited in: Autosomal dominant hypocalcemia in monozygotic twins caused by a de novo germline mutation near the amino-terminus of… (PMID 15005845)
- Cited in: Autosomal dominant hypocalcemia with mild type 5 Bartter syndrome. (PMID 17048213)