P35A (p.Pro35Ala) variant of GATA1 (Erythroid transcription factor)
P35A (p.Pro35Ala) in GATA1 (Erythroid transcription factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
P35A (p.Pro35Ala) variant details
- p.Pro35Ala
- gnomAD X-48791212-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.25
- MetaLR 0.78
- MetaSVM 0.05
- CADD 12.50
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 4.8e-06)
- Structural context available
- Literature evidence available