C7W (p.Cys7Trp) variant of CASR (P41180)
C7W (p.Cys7Trp) 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 0.38 / 1. The record also includes population frequency data and structural context.
C7W (p.Cys7Trp) variant details
- p.Cys7Trp
- rs1381043518
- ClinGen CA354361963
- ClinVar RCV004061209
- gnomAD rs1381043518
- Uncertain significance
- Nephrolithiasis/nephrocalcinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- CADD 17.00
- PolyPhen-2 0.00
- SIFT 0.21
- ClinVar: Uncertain significance (Nephrolithiasis/nephrocalcinosis)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available