A168D (p.Ala168Asp) variant of CASR (P41180)
A168D (p.Ala168Asp) 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 0.70 / 1. The record also includes structural context.
A168D (p.Ala168Asp) variant details
- p.Ala168Asp
- rs1576857840
- ClinGen CA354150728
- ClinVar RCV001989416
- Ensembl rs1576857840
- Uncertain significance
- Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercalcemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- AlphaMissense 0.91
- MetaLR 0.79
- MetaSVM 0.46
- PolyPhen-2 1.00
- SIFT 0.46
- EVE 0.41
- ClinVar: Uncertain significance (Autosomal dominant hypocalcemia 1; Familial hypocalciuric hyperc)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available