A45G (p.Ala45Gly) variant of GATA1 (Erythroid transcription factor)
A45G (p.Ala45Gly) in GATA1 (Erythroid transcription factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A45G (p.Ala45Gly) variant details
- p.Ala45Gly
- gnomAD X-48791243-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.21
- MetaLR 0.70
- MetaSVM 0.00
- CADD 12.70
- PolyPhen-2 0.00
- SIFT 0.29
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available