I33S (p.Ile33Ser) variant of CASR (P41180)
I33S (p.Ile33Ser) 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; Epilepsy, idiopathic generalized, susceptibili. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
I33S (p.Ile33Ser) variant details
- p.Ile33Ser
- rs758232331
- ClinGen CA2569420
- ClinVar RCV000819914
- ClinVar RCV002487826
- Conflicting interpretations
- Nephrolithiasis/nephrocalcinosis; Epilepsy, idiopathic generalized, susceptibili
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- CADD 27.40
- PolyPhen-2 0.46
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Nephrolithiasis/nephrocalcinosis; Epilepsy, idiopathic generaliz)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available