D217Y (p.Asp217Tyr) variant of CASR (P41180)
D217Y (p.Asp217Tyr) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercalcemia 1; Nephr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes structural context.
D217Y (p.Asp217Tyr) variant details
- p.Asp217Tyr
- rs201091657
- ClinGen CA354151047
- ClinVar RCV000494358
- ClinVar RCV004992275
- Pathogenic/Likely pathogenic
- Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercalcemia 1; Nephr
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- AlphaMissense 0.43
- MetaLR 0.70
- MetaSVM 0.40
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.23
- ClinVar: Pathogenic/Likely pathogenic (Autosomal dominant hypocalcemia 1; Familial hypocalciuric hyperc)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available