F18L (p.Phe18Leu) variant of GATA1 (Erythroid transcription factor)
F18L (p.Phe18Leu) 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 and structural context.
F18L (p.Phe18Leu) variant details
- p.Phe18Leu
- Ensembl rs1602218975
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.43
- MetaLR 0.87
- MetaSVM 0.89
- CADD 21.60
- PolyPhen-2 0.01
- SIFT 0.03
- Population evidence available
- Structural context available