S51R (p.Ser51Arg) variant of GATA1 (Erythroid transcription factor)
S51R (p.Ser51Arg) in GATA1 (Erythroid transcription factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
S51R (p.Ser51Arg) variant details
- p.Ser51Arg
- gnomAD X-48791262-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.24
- MetaLR 0.72
- MetaSVM -0.07
- CADD 14.90
- PolyPhen-2 0.04
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available