G10E (p.Gly10Glu) variant of GATA1 (Erythroid transcription factor)
G10E (p.Gly10Glu) in GATA1 (Erythroid transcription factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
G10E (p.Gly10Glu) variant details
- p.Gly10Glu
- cosmic curated COSV64963
- ExAC rs782258887
- gnomAD rs782258887
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- REVEL 0.41
- MetaLR 0.87
- MetaSVM 0.79
- CADD 21.30
- PolyPhen-2 0.72
- SIFT 0.38
- Most common in the South Asian population (allele frequency 3.7e-05)
- Structural context available