E82Q (p.Glu82Gln) variant of GNA13 (Q14344)
E82Q (p.Glu82Gln) in GNA13 (Q14344) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data.
E82Q (p.Glu82Gln) variant details
- p.Glu82Gln
- gnomAD rs1369137082
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.32
- MetaLR 0.67
- MetaSVM 0.08
- CADD 24.10
- PolyPhen-2 0.99
- SIFT 0.43
- Most common in the South Asian population (allele frequency 1.2e-05)