A58E (p.Ala58Glu) variant of GATA1 (Erythroid transcription factor)
A58E (p.Ala58Glu) in GATA1 (Erythroid transcription factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
A58E (p.Ala58Glu) variant details
- p.Ala58Glu
- gnomAD X-48791282-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.34
- MetaLR 0.76
- MetaSVM -0.00
- CADD 20.90
- PolyPhen-2 0.02
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available