P73S (p.Pro73Ser) variant of GATA1 (Erythroid transcription factor)
P73S (p.Pro73Ser) in GATA1 (Erythroid transcription factor) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
P73S (p.Pro73Ser) variant details
- p.Pro73Ser
- NCI-TCGA Cosmic COSV1009
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.31
- MetaLR 0.91
- MetaSVM 0.86
- CADD 11.30
- PolyPhen-2 0.02
- SIFT 0.28
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available