D215N (p.Asp215Asn) variant of CASR (P41180)
D215N (p.Asp215Asn) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercalcemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes structural context.
D215N (p.Asp215Asn) variant details
- p.Asp215Asn
- rs1553731681
- ClinGen CA354151032
- ClinVar RCV003805077
- Uncertain significance
- Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercalcemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- AlphaMissense 0.95
- MetaLR 0.87
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.69
- ClinVar: Uncertain significance (Autosomal dominant hypocalcemia 1; Familial hypocalciuric hyperc)
- EBI: Variant of uncertain significance (in HHC1)
- UniProt: Uncertain significance (in HHC1)
- Structural context available