STAT5A p.Thr155=
c.465G>A · rs202199601 · VCV731253
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.461%, eas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -20 | GERP -3.7 |
| Overall | ||
| CADD | 3.763 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.461%
East Asian · 207/44,880 alleles
Filtering AF
0.41%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.39%
Overall
0.0154%
249/1,613,786 alleles · rare
exomes 204/1,461,486 · genomes 45/152,300 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.461% | 217 |
| Remaining individualsnot grpmax-eligible | 0.0416% | 2,404 |
| South Asian | 0.00879% | 11,371 |
| Admixed American | 0.00501% | 19,979 |
| European (non-Finnish) | 0.000424% | 235,977 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- STAT5A
- Protein
- p.Thr155=
- Coding
- c.465G>A
- MANE Select
- NM_001288718
- dbSNP
- rs202199601
- Type
- single nucleotide variant
- Location
- chr17:42295708 (GRCh38)
- Gene constraint
- LOEUF 0.364 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 85.78 · 5 PDB
- Residue 155
- an α-helix
Similar variants
- STAT5A c.2063-4A>G Benign ★★ same type
- STAT5A p.Asp743= Benign ★★ same type
- STAT5A p.Leu746= Benign ★★ same type
- STAT5A p.Val209Ala Benign ★★ same type
- STAT5A p.Ala213Val Uncertain significance ★ ⚠ same type
- STAT5A p.Ala318Thr Uncertain significance ★ ⚠ same type
- STAT5A p.Ala45Ser Uncertain significance ★ ⚠ same type
- STAT5A p.Ala510Thr Uncertain significance ★ ⚠ same type
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/stat5a-p-thr155 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown