E24V (p.Glu24Val) variant of GNA11 (P29992)
E24V (p.Glu24Val) in GNA11 (P29992) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
E24V (p.Glu24Val) variant details
- p.Glu24Val
- rs1913318572
- ClinGen CA403299691
- ClinVar RCV003328751
- TOPMed rs1913318572
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- REVEL 0.74
- AlphaMissense 0.99
- MetaLR 0.86
- MetaSVM 0.86
- CADD 29.80
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available