G30E (p.Gly30Glu) variant of CASR (P41180)
G30E (p.Gly30Glu) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalc. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes structural context.
G30E (p.Gly30Glu) variant details
- p.Gly30Glu
- rs1553765889
- ClinGen CA354362108
- NCI-TCGA Cosmic COSV5613
- cosmic curated COSV56137
- Uncertain significance
- not specified; Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalc
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- AlphaMissense 0.99
- MetaLR 0.84
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.58
- ClinVar: Uncertain significance (not specified; Familial hypocalciuric hypercalcemia; Autosomal d)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available