A58A (p.Ala58Ala) variant of GATA1 (Erythroid transcription factor)
A58A (p.Ala58Ala) in GATA1 (Erythroid transcription factor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
A58A (p.Ala58Ala) variant details
- p.Ala58Ala
- rs139614533
- gnomAD X-48791283-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0848
- CADD 0.59
- Most common in the HGDP:DAI population (allele frequency 0.083)
- Structural context available
- Cited in: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American… (PMID 25741868)