L60M (p.Leu60Met) variant of GATA1 (Erythroid transcription factor)
L60M (p.Leu60Met) in GATA1 (Erythroid transcription factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
L60M (p.Leu60Met) variant details
- p.Leu60Met
- gnomAD X-48791287-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.34
- MetaLR 0.86
- MetaSVM 0.45
- CADD 19.50
- PolyPhen-2 0.55
- SIFT 0.23
- Population evidence available
- Structural context available
- Literature evidence available