S72A (p.Ser72Ala) variant of GATA1 (Erythroid transcription factor)
S72A (p.Ser72Ala) in GATA1 (Erythroid transcription factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
S72A (p.Ser72Ala) variant details
- p.Ser72Ala
- gnomAD X-48791323-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- REVEL 0.46
- MetaLR 0.90
- MetaSVM 0.87
- CADD 19.00
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available