Y218H (p.Tyr218His) variant of CASR (P41180)
Y218H (p.Tyr218His) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
Y218H (p.Tyr218His) variant details
- p.Tyr218His
- rs1057520583
- ClinGen CA354151052
- ClinVar RCV001238160
- ClinVar RCV005251259
- Conflicting interpretations
- not provided; Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercal
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- AlphaMissense 1.00
- MetaLR 0.87
- MetaSVM 0.96
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Autosomal dominant hypocalcemia 1; Familial hypoca)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available