P35S (p.Pro35Ser) variant of GATA1 (Erythroid transcription factor)
P35S (p.Pro35Ser) in GATA1 (Erythroid transcription factor) is a missense change. 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.
P35S (p.Pro35Ser) variant details
- p.Pro35Ser
- cosmic curated COSV64962
- gnomAD rs1557020030
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.31
- MetaLR 0.62
- MetaSVM -0.22
- CADD 7.36
- PolyPhen-2 0.00
- SIFT 0.14
- Population evidence available
- Structural context available