H16Y (p.His16Tyr) variant of CASR (P41180)
H16Y (p.His16Tyr) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
H16Y (p.His16Tyr) variant details
- p.His16Tyr
- rs769932724
- ClinGen CA2569407
- ClinVar RCV002710526
- ExAC rs769932724
- Uncertain significance
- Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.0782
- CADD 0.01
- PolyPhen-2 0.10
- SIFT 1.00
- ClinVar: Uncertain significance (Familial hypocalciuric hypercalcemia; Autosomal dominant hypocal)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available