A58G (p.Ala58Gly) variant of GATA1 (Erythroid transcription factor)
A58G (p.Ala58Gly) in GATA1 (Erythroid transcription factor) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
A58G (p.Ala58Gly) variant details
- p.Ala58Gly
- 1000Genomes rs782299679
- ExAC rs782299679
- TOPMed rs782299679
- gnomAD rs782299679
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.26
- MetaLR 0.79
- MetaSVM 0.05
- CADD 17.40
- PolyPhen-2 0.02
- SIFT 0.25
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available