K47N (p.Lys47Asn) variant of CASR (P41180)
K47N (p.Lys47Asn) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal dominant hypocalcemia 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes published literature and structural context.
K47N (p.Lys47Asn) variant details
- p.Lys47Asn
- rs104893702
- ClinGen CA119511
- ClinVar RCV000008839
- UniProt VAR 058050
- Pathogenic
- Autosomal dominant hypocalcemia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- AlphaMissense 0.64
- MetaLR 0.64
- MetaSVM 0.29
- PolyPhen-2 1.00
- SIFT 0.09
- MutPred 0.62
- ClinVar: Pathogenic (Autosomal dominant hypocalcemia 1)
- EBI: Pathogenic (in HYPOC1)
- UniProt: Pathogenic (in HYPOC1)
- Structural context available
- Cited in: A novel activating mutation in calcium-sensing receptor gene associated with a family of autosomal dominant… (PMID 9920108)
- Cited in: Autosomal dominant hypoparathyroidism associated with short stature and premature osteoarthritis. (PMID 10487661)