G5D (p.Gly5Asp) variant of GATA1 (Erythroid transcription factor)
G5D (p.Gly5Asp) in GATA1 (Erythroid transcription factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
G5D (p.Gly5Asp) variant details
- p.Gly5Asp
- gnomAD X-48791123-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.41
- MetaLR 0.88
- MetaSVM 0.44
- CADD 23.40
- PolyPhen-2 0.94
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available