V19V (p.Val19Val) variant of GATA1 (Erythroid transcription factor)
V19V (p.Val19Val) in GATA1 (Erythroid transcription factor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
V19V (p.Val19Val) variant details
- p.Val19Val
- rs2062673593
- gnomAD X-48791166-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.226
- CADD 6.85
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available
- Literature evidence available