D50V (p.Asp50Val) variant of CASR (P41180)
D50V (p.Asp50Val) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Nephrolithiasis/nephrocalcinosis; Familial hypocalciuric hypercalcemia; Autosoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes structural context.
D50V (p.Asp50Val) variant details
- p.Asp50Val
- rs1174370617
- ClinGen CA354362237
- ClinVar RCV001243613
- ClinVar RCV004034755
- Uncertain significance
- Nephrolithiasis/nephrocalcinosis; Familial hypocalciuric hypercalcemia; Autosoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- AlphaMissense 0.39
- MetaLR 0.68
- MetaSVM 0.46
- PolyPhen-2 0.99
- SIFT 0.02
- MutPred 0.35
- ClinVar: Uncertain significance (Nephrolithiasis/nephrocalcinosis; Familial hypocalciuric hyperca)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available