A56V (p.Ala56Val) variant of GATA1 (Erythroid transcription factor)
A56V (p.Ala56Val) in GATA1 (Erythroid transcription factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
A56V (p.Ala56Val) variant details
- p.Ala56Val
- gnomAD X-48791276-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.37
- MetaLR 0.79
- MetaSVM 0.22
- CADD 18.60
- PolyPhen-2 0.35
- SIFT 0.50
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available