P38P (p.Pro38Pro) variant of GATA1 (Erythroid transcription factor)
P38P (p.Pro38Pro) in GATA1 (Erythroid transcription factor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
P38P (p.Pro38Pro) variant details
- p.Pro38Pro
- gnomAD X-48791223-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.111
- CADD 4.30
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available