P16L (p.Pro16Leu) variant of GATA1 (Erythroid transcription factor)
P16L (p.Pro16Leu) in GATA1 (Erythroid transcription factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
P16L (p.Pro16Leu) variant details
- p.Pro16Leu
- gnomAD X-48791156-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.40
- MetaLR 0.87
- MetaSVM 0.78
- CADD 21.40
- PolyPhen-2 0.07
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available