S36L (p.Ser36Leu) variant of GATA1 (Erythroid transcription factor)
S36L (p.Ser36Leu) in GATA1 (Erythroid transcription factor) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
S36L (p.Ser36Leu) variant details
- p.Ser36Leu
- rs1273620943
- gnomAD X-48791210-T-TC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.56
- CADD 24.90
- Most common in the African/African-American population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available