L15I (p.Leu15Ile) variant of GATA1 (Erythroid transcription factor)
L15I (p.Leu15Ile) 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.
L15I (p.Leu15Ile) variant details
- p.Leu15Ile
- gnomAD X-48791152-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.38
- MetaLR 0.86
- MetaSVM 0.63
- CADD 14.20
- PolyPhen-2 0.35
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available