G36R (p.Gly36Arg) variant of CASR (P41180)
G36R (p.Gly36Arg) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Nephrolithiasis/nephrocalcinosis; Familial hyperparathyroidism or Hypocalciuric. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
G36R (p.Gly36Arg) variant details
- p.Gly36Arg
- rs193922420
- ClinGen CA213559
- ClinVar RCV000341520
- ClinVar RCV000705981
- Conflicting interpretations
- Nephrolithiasis/nephrocalcinosis; Familial hyperparathyroidism or Hypocalciuric
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Nephrolithiasis/nephrocalcinosis; Familial hyperparathyroidism o)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available