L9P (p.Leu9Pro) variant of GATA1 (Erythroid transcription factor)
L9P (p.Leu9Pro) 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.
L9P (p.Leu9Pro) variant details
- p.Leu9Pro
- gnomAD X-48791135-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.50
- MetaLR 0.92
- MetaSVM 0.84
- CADD 23.10
- PolyPhen-2 0.55
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available