STAT5B p.Ala371=
c.1113C>T · rs766426761 · VCV760458
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.000508%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -0.23 | GERP -4.2, phastCons 0.075 |
| Overall | ||
| CADD | 5.179 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.000508%
European (non-Finnish) · 6/1,180,032 alleles
Filtering AF
0.000183%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00012%
Overall
0.000372%
6/1,614,178 alleles · very rare
exomes 6/1,461,894 · genomes 0/152,284 · joint denominator
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
- STAT5B
- Protein
- p.Ala371=
- Coding
- c.1113C>T
- MANE Select
- NM_012448
- dbSNP
- rs766426761
- Type
- single nucleotide variant
- Location
- chr17:42218207 (GRCh38)
- Gene constraint
- LOEUF 0.277 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 85.90 · 2 PDB
- Residue 371
- a β-strand
Similar variants
- STAT5B c.1906+1G>A Likely pathogenic ★★ same type
- STAT5B p.Ala20Glu Uncertain significance ★★ ⚠ same type
- STAT5B p.Ala20Val Uncertain significance ★★ ⚠ same type
- STAT5B p.Ala213Gly Uncertain significance ★★ ⚠ same type
- STAT5B p.Ala213Ser Uncertain significance ★★ ⚠ same type
- STAT5B p.Ala723Thr Uncertain significance ★★ ⚠ same type
- STAT5B p.Ala785Thr Uncertain significance ★★ ⚠ same type
- STAT5B p.Arg121Leu 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/stat5b-p-ala371 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown