A68V (p.Ala68Val) variant of GATA1 (Erythroid transcription factor)
A68V (p.Ala68Val) in GATA1 (Erythroid transcription factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
A68V (p.Ala68Val) variant details
- p.Ala68Val
- gnomAD X-48791312-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.40
- MetaLR 0.86
- MetaSVM 0.43
- CADD 16.20
- PolyPhen-2 0.19
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available