S72F (p.Ser72Phe) variant of GATA1 (Erythroid transcription factor)
S72F (p.Ser72Phe) in GATA1 (Erythroid transcription factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
S72F (p.Ser72Phe) variant details
- p.Ser72Phe
- Ensembl rs1557020070
- Missense
- Variant Prioritization Score for Impact Estimate 0.697
- REVEL 0.64
- MetaLR 0.93
- MetaSVM 0.90
- CADD 22.70
- PolyPhen-2 0.45
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available