N802S (p.Asn802Ser) variant of CASR (P41180)
N802S (p.Asn802Ser) 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; CASR-re. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
N802S (p.Asn802Ser) variant details
- p.Asn802Ser
- rs140022350
- ClinGen CA2569822
- ClinVar RCV000433842
- ClinVar RCV000700033
- Pathogenic/Likely pathogenic
- Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercalcemia; CASR-re
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- CADD 24.70
- PolyPhen-2 0.79
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Autosomal dominant hypocalcemia 1; Familial hypocalciuric hyperc)
- EBI: Pathogenic (in HHC1)
- UniProt: Pathogenic (in HHC1)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Two novel mutations of the calcium-sensing receptor gene affecting the same amino acid position lead to opposite… (PMID 23169696)
- Cited in: Intermolecular interactions between dimeric calcium-sensing receptor monomers are important for its normal function. (PMID 10077597)