D215H (p.Asp215His) variant of CASR (P41180)
D215H (p.Asp215His) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial hypocalciuric hypercalcemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes structural context.
D215H (p.Asp215His) variant details
- p.Asp215His
- rs1553731681
- ClinGen CA213604
- ClinVar RCV000029454
- Ensembl rs1553731681
- Likely pathogenic
- 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: Likely pathogenic (Familial hypocalciuric hypercalcemia)
- EBI: Likely pathogenic (in HHC1)
- UniProt: Likely pathogenic (in HHC1)
- Structural context available