A58V (p.Ala58Val) variant of GATA1 (Erythroid transcription factor)
A58V (p.Ala58Val) in GATA1 (Erythroid transcription factor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; GATA binding protein 1 related thrombocytopenia with dyserythropoi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
A58V (p.Ala58Val) variant details
- p.Ala58Val
- rs782299679
- ClinGen CA10404548
- NCI-TCGA Cosmic COSV6496
- cosmic curated COSV64963
- Conflicting interpretations
- not provided; GATA binding protein 1 related thrombocytopenia with dyserythropoi
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.35
- MetaLR 0.77
- MetaSVM 0.08
- CADD 21.50
- PolyPhen-2 0.01
- SIFT 0.25
- ClinVar: Conflicting classifications of pathogenicity (not provided; GATA binding protein 1 related thrombocytopenia wi)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:KHV population (allele frequency 0.013)
- Structural context available
- Cited in: DBA Syndrome. (PMID 20301769)
- Cited in: GATA1-Related Cytopenia. (PMID 20301538)