Y62D (p.Tyr62Asp) variant of GATA1 (Erythroid transcription factor)
Y62D (p.Tyr62Asp) in GATA1 (Erythroid transcription factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
Y62D (p.Tyr62Asp) variant details
- p.Tyr62Asp
- gnomAD X-48791293-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- REVEL 0.69
- MetaLR 0.89
- MetaSVM 0.67
- CADD 23.00
- PolyPhen-2 0.44
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.5e-06)
- Structural context available
- Literature evidence available