Y4C (p.Tyr4Cys) variant of CASR (P41180)
Y4C (p.Tyr4Cys) 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; Autosomal dominant hypocalcemia 1; Familial hy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
Y4C (p.Tyr4Cys) variant details
- p.Tyr4Cys
- rs1171102282
- ClinGen CA354361936
- ClinVar RCV000687843
- ClinVar RCV000987309
- Uncertain significance
- Nephrolithiasis/nephrocalcinosis; Autosomal dominant hypocalcemia 1; Familial hy
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 0.02
- ClinVar: Uncertain significance (Nephrolithiasis/nephrocalcinosis; Autosomal dominant hypocalcemi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available