G36V (p.Gly36Val) variant of CASR (P41180)
G36V (p.Gly36Val) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1; not spe. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes structural context.
G36V (p.Gly36Val) variant details
- p.Gly36Val
- rs1559955372
- ClinGen CA354362146
- cosmic curated COSV56134
- ClinVar RCV002233725
- Uncertain significance
- Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1; not spe
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- AlphaMissense 0.99
- MetaLR 0.82
- MetaSVM 0.84
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.52
- ClinVar: Uncertain significance (Familial hypocalciuric hypercalcemia; Autosomal dominant hypocal)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available