A66P (p.Ala66Pro) variant of GATA1 (Erythroid transcription factor)
A66P (p.Ala66Pro) in GATA1 (Erythroid transcription factor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Diamond-Blackfan anemia; GATA binding protein 1 related thrombocytopenia with dy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes published literature and structural context.
A66P (p.Ala66Pro) variant details
- p.Ala66Pro
- rs149753411
- ClinGen CA412867239
- ClinVar RCV001906685
- ESP rs149753411
- Uncertain significance
- Diamond-Blackfan anemia; GATA binding protein 1 related thrombocytopenia with dy
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- AlphaMissense 0.07
- MetaLR 0.83
- MetaSVM 0.29
- PolyPhen-2 0.99
- SIFT 0.09
- EVE 0.11
- ClinVar: Uncertain significance (Diamond-Blackfan anemia; GATA binding protein 1 related thromboc)
- EBI: Benign
- UniProt: Benign
- Structural context available
- Cited in: DBA Syndrome. (PMID 20301769)
- Cited in: GATA1-Related Cytopenia. (PMID 20301538)