V9D (p.Val9Asp) variant of CASR (P41180)
V9D (p.Val9Asp) 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 record also includes structural context.
V9D (p.Val9Asp) variant details
- p.Val9Asp
- rs2473204987
- ClinGen CA354361976
- ClinVar RCV003806005
- Uncertain significance
- Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercalcemia
- Missense
- ClinVar: Uncertain significance (Autosomal dominant hypocalcemia 1; Familial hypocalciuric hyperc)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available