S26F (p.Ser26Phe) variant of GATA1 (Erythroid transcription factor)
S26F (p.Ser26Phe) in GATA1 (Erythroid transcription factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
S26F (p.Ser26Phe) variant details
- p.Ser26Phe
- cosmic curated COSV64961
- ExAC rs781957095
- gnomAD rs781957095
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.40
- MetaLR 0.87
- MetaSVM 0.43
- CADD 22.60
- PolyPhen-2 0.83
- SIFT 0.06
- Population evidence available
- Structural context available