A58S (p.Ala58Ser) variant of GATA1 (Erythroid transcription factor)
A58S (p.Ala58Ser) in GATA1 (Erythroid transcription factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
A58S (p.Ala58Ser) variant details
- p.Ala58Ser
- TOPMed rs1557020053
- gnomAD rs1557020053
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.31
- MetaLR 0.67
- MetaSVM 0.05
- CADD 9.72
- PolyPhen-2 0.00
- SIFT 0.98
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available