S51G (p.Ser51Gly) variant of GATA1 (Erythroid transcription factor)
S51G (p.Ser51Gly) in GATA1 (Erythroid transcription factor) is a missense 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.
S51G (p.Ser51Gly) variant details
- p.Ser51Gly
- gnomAD X-48791260-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.15
- MetaLR 0.72
- MetaSVM -0.09
- CADD 10.20
- PolyPhen-2 0.01
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available