A68D (p.Ala68Asp) variant of GATA1 (Erythroid transcription factor)
A68D (p.Ala68Asp) in GATA1 (Erythroid transcription factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
A68D (p.Ala68Asp) variant details
- p.Ala68Asp
- gnomAD X-48791312-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.46
- MetaLR 0.87
- MetaSVM 0.53
- CADD 16.60
- PolyPhen-2 0.35
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available