G5S (p.Gly5Ser) variant of GATA1 (Erythroid transcription factor)
G5S (p.Gly5Ser) in GATA1 (Erythroid transcription factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
G5S (p.Gly5Ser) variant details
- p.Gly5Ser
- Ensembl rs2147305538
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.39
- MetaLR 0.84
- MetaSVM 0.47
- CADD 19.60
- PolyPhen-2 0.41
- SIFT 0.14
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available