D217G (p.Asp217Gly) variant of CASR (P41180)
D217G (p.Asp217Gly) 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; not pro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes structural context.
D217G (p.Asp217Gly) variant details
- p.Asp217Gly
- rs886041155
- ClinGen CA10602862
- cosmic curated COSV56137
- ClinVar RCV000302361
- Uncertain significance
- Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercalcemia; not pro
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- AlphaMissense 0.76
- MetaLR 0.74
- MetaSVM 0.62
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.44
- ClinVar: Uncertain significance (Autosomal dominant hypocalcemia 1; Familial hypocalciuric hyperc)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available