Y218C (p.Tyr218Cys) variant of CASR (P41180)
Y218C (p.Tyr218Cys) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1; Familia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
Y218C (p.Tyr218Cys) variant details
- p.Tyr218Cys
- rs2074624616
- ClinGen CA354151055
- ClinVar RCV001233279
- ClinVar RCV002497795
- Pathogenic/Likely pathogenic
- Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1; Familia
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Familial hypocalciuric hypercalcemia; Autosomal dominant hypocal)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available