F75I (p.Phe75Ile) variant of GATA1 (Erythroid transcription factor)
F75I (p.Phe75Ile) in GATA1 (Erythroid transcription factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
F75I (p.Phe75Ile) variant details
- p.Phe75Ile
- gnomAD X-48791846-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.34
- AlphaMissense 0.51
- MetaLR 0.11
- MetaSVM -1.06
- CADD 18.10
- PolyPhen-2 0.99
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available