I555T (p.Ile555Thr) variant of CASR (P41180)
I555T (p.Ile555Thr) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Nephrolithiasis/nephrocalcinosis; Familial hypocalciuric hypercalcemia; Autosoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
I555T (p.Ile555Thr) variant details
- p.Ile555Thr
- rs1576875819
- ClinGen CA354156225
- ClinVar RCV000991738
- ClinVar RCV001323851
- Pathogenic/Likely pathogenic
- Nephrolithiasis/nephrocalcinosis; Familial hypocalciuric hypercalcemia; Autosoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- CADD 24.00
- PolyPhen-2 0.85
- SIFT 0.27
- ClinVar: Pathogenic/Likely pathogenic (Nephrolithiasis/nephrocalcinosis; Familial hypocalciuric hyperca)
- EBI: Pathogenic (in HHC1)
- UniProt: Pathogenic (in HHC1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available