L13P (p.Leu13Pro) variant of CASR (P41180)
L13P (p.Leu13Pro) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Nephrolithiasis/nephrocalcinosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes published literature and structural context.
L13P (p.Leu13Pro) variant details
- p.Leu13Pro
- rs104893717
- ClinGen CA119539
- ClinVar RCV000008858
- ClinVar RCV004018601
- Uncertain significance
- Nephrolithiasis/nephrocalcinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- AlphaMissense 0.13
- MetaLR 0.50
- MetaSVM -0.04
- PolyPhen-2 0.30
- SIFT 0.01
- MutPred 0.73
- ClinVar: Uncertain significance (Nephrolithiasis/nephrocalcinosis)
- EBI: Pathogenic (in HHC1)
- UniProt: Pathogenic (in HHC1)
- Structural context available
- Cited in: An adult patient with severe hypercalcaemia and hypocalciuria due to a novel homozygous inactivating mutation of… (PMID 10468915)
- Cited in: Severe hypercalcemia in a 9-year-old Brazilian girl due to a novel inactivating mutation of the calcium-sensing… (PMID 15579740)