D32G (p.Asp32Gly) variant of GNA11 (P29992)
D32G (p.Asp32Gly) in GNA11 (P29992) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial hypocalciuric hypercalcemia 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
D32G (p.Asp32Gly) variant details
- p.Asp32Gly
- rs200234790
- ClinGen CA304298984
- ClinVar RCV000857316
- Ensembl rs200234790
- Uncertain significance
- Familial hypocalciuric hypercalcemia 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- REVEL 0.63
- AlphaMissense 0.75
- MetaLR 0.66
- MetaSVM 0.36
- CADD 24.90
- PolyPhen-2 0.72
- ClinVar: Uncertain significance (Familial hypocalciuric hypercalcemia 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available