N178D (p.Asn178Asp) variant of CASR (P41180)
N178D (p.Asn178Asp) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercalcemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
N178D (p.Asn178Asp) variant details
- p.Asn178Asp
- rs1060502855
- ClinGen CA16611083
- ClinVar RCV002230097
- ClinVar RCV002271503
- Pathogenic/Likely pathogenic
- Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercalcemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- AlphaMissense 0.17
- MetaLR 0.58
- MetaSVM -0.10
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 1.00
- ClinVar: Pathogenic/Likely pathogenic (Autosomal dominant hypocalcemia 1; Familial hypocalciuric hyperc)
- EBI: Pathogenic (in HHC1)
- UniProt: Pathogenic (in HHC1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Functional characterization of calcium-sensing receptor mutations expressed in human embryonic kidney cells. (PMID 8878438)
- Cited in: Intermolecular interactions between dimeric calcium-sensing receptor monomers are important for its normal function. (PMID 10077597)