A68T (p.Ala68Thr) variant of GATA1 (Erythroid transcription factor)
A68T (p.Ala68Thr) in GATA1 (Erythroid transcription factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
A68T (p.Ala68Thr) variant details
- p.Ala68Thr
- gnomAD X-48791311-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.34
- MetaLR 0.85
- MetaSVM 0.39
- CADD 10.30
- PolyPhen-2 0.02
- SIFT 0.54
- Population evidence available
- Structural context available
- Literature evidence available