L11S (p.Leu11Ser) variant of CASR (P41180)
L11S (p.Leu11Ser) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Autosomal dominant hypocalcemia 1; not provided; Nephrolithiasis/nephrocalcinosi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
L11S (p.Leu11Ser) variant details
- p.Leu11Ser
- rs200673016
- ClinGen CA2569405
- ClinVar RCV000802402
- ClinVar RCV001146802
- Conflicting interpretations
- Autosomal dominant hypocalcemia 1; not provided; Nephrolithiasis/nephrocalcinosi
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- CADD 23.20
- PolyPhen-2 0.41
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Autosomal dominant hypocalcemia 1; not provided; Nephrolithiasis)
- EBI: Pathogenic (in HHC1)
- UniProt: Pathogenic (in HHC1)
- Most common in the HGDP:COLOMBIAN population (allele frequency 0.17)
- Structural context available
- Cited in: Impaired cotranslational processing of the calcium-sensing receptor due to signal peptide missense mutations in… (PMID 15879434)
- Cited in: Intermolecular interactions between dimeric calcium-sensing receptor monomers are important for its normal function. (PMID 10077597)