L60Q (p.Leu60Gln) variant of GATA1 (Erythroid transcription factor)
L60Q (p.Leu60Gln) in GATA1 (Erythroid transcription factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
L60Q (p.Leu60Gln) variant details
- p.Leu60Gln
- gnomAD X-48791288-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.52
- MetaLR 0.80
- MetaSVM 0.35
- CADD 22.60
- PolyPhen-2 0.33
- SIFT 0.33
- Population evidence available
- Structural context available
- Literature evidence available