GATA1 p.Ala55fs
c.162_178del · VCV4786484
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
2
GATA1-related cytopenia
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 2 of 6 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 2.8 | GERP 0.22, phastCons 0.2 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- GATA1
- Protein
- p.Ala55fs
- Coding
- c.162_178del
- MANE Select
- NM_002049
- Type
- Deletion
- Location
- chrX:48791268 (GRCh38)
- Structure
- AlphaFold pLDDT 59.48 · 1 PDB
Similar variants
- GATA1 p.Ala55Thr Benign/Likely benign ★★ same residue
- GATA1 p.Ala55Val Uncertain significance ★ ⚠ same residue
- GATA1 p.Val32fs Pathogenic/Likely pathogenic ★★ same condition
- GATA1 c.220_220+9del Likely pathogenic ★ same condition
- GATA1 c.220+1del Pathogenic ★ same condition
- GATA1 p.Ala61fs Pathogenic ★ same condition
- GATA1 p.Arg64fs Pathogenic ★ same condition
- GATA1 p.Asn238fs Pathogenic ★ same condition
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/gata1-p-ala55fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown