E39Q (p.Glu39Gln) variant of GATA1 (Erythroid transcription factor)
E39Q (p.Glu39Gln) in GATA1 (Erythroid transcription factor) 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 0.69 / 1. The record also includes structural context.
E39Q (p.Glu39Gln) variant details
- p.Glu39Gln
- rs782474159
- NCI-TCGA Cosmic COSV6496
- cosmic curated COSV64963
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- AlphaMissense 0.24
- MetaLR 0.88
- MetaSVM 0.54
- PolyPhen-2 0.96
- SIFT 0.01
- MutPred 0.17
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available