E29A (p.Glu29Ala) variant of GATA1 (Erythroid transcription factor)
E29A (p.Glu29Ala) in GATA1 (Erythroid transcription factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
E29A (p.Glu29Ala) variant details
- p.Glu29Ala
- gnomAD rs1557020017
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.28
- MetaLR 0.80
- MetaSVM 0.23
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.5e-05)
- Structural context available