R70R (p.Arg70Arg) variant of GATA1 (Erythroid transcription factor)
R70R (p.Arg70Arg) in GATA1 (Erythroid transcription factor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
R70R (p.Arg70Arg) variant details
- p.Arg70Arg
- rs141512330
- gnomAD X-48791319-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.239
- CADD 8.88
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available
- Literature evidence available