Y218N (p.Tyr218Asn) variant of CASR (P41180)
Y218N (p.Tyr218Asn) 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 0.85 / 1. The record also includes structural context.
Y218N (p.Tyr218Asn) variant details
- p.Tyr218Asn
- rs1057520583
- ClinGen CA354151053
- ClinVar RCV003781013
- Uncertain significance
- Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- AlphaMissense 1.00
- MetaLR 0.87
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.64
- ClinVar: Uncertain significance (Familial hypocalciuric hypercalcemia; Autosomal dominant hypocal)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available