E83Q (p.Glu83Gln) variant of GNA13 (Q14344)
E83Q (p.Glu83Gln) in GNA13 (Q14344) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data.
E83Q (p.Glu83Gln) variant details
- p.Glu83Gln
- NCI-TCGA Cosmic COSV1014
- gnomAD rs1908059424
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- REVEL 0.43
- MetaLR 0.44
- MetaSVM -0.45
- CADD 23.00
- SIFT 0.27
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 0.00021)