Y4H (p.Tyr4His) variant of CASR (P41180)
Y4H (p.Tyr4His) 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; Nephrol. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes structural context.
Y4H (p.Tyr4His) variant details
- p.Tyr4His
- rs1559955224
- ClinGen CA354361932
- ClinVar RCV002233448
- ClinVar RCV004026752
- Uncertain significance
- Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1; Nephrol
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- AlphaMissense 0.09
- MetaLR 0.45
- MetaSVM -0.62
- PolyPhen-2 0.00
- SIFT 0.06
- MutPred 0.55
- ClinVar: Uncertain significance (Familial hypocalciuric hypercalcemia; Autosomal dominant hypocal)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available