GOT2 p.Thr217=
c.651G>A · rs181076765 · VCV2085716
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0201%, eas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.264 | benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
| Constraint at this position | ||
| Conservation | phyloP -20 | GERP -3.7 |
| Overall | ||
| CADD | 0.147 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0201%
East Asian · 9/44,876 alleles
Filtering AF
0.0104%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00779%
Overall
0.00266%
43/1,614,112 alleles · ultra-rare
exomes 36/1,461,768 · genomes 7/152,344 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.0201% | 4,986 |
| Admixed American | 0.00833% | 12,003 |
| Remaining individualsnot grpmax-eligible | 0.0048% | 20,837 |
| South Asian | 0.0022% | 45,541 |
| European (non-Finnish) | 0.00203% | 49,164 |
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
- GOT2
- Protein
- p.Thr217=
- Coding
- c.651G>A
- MANE Select
- NM_002080
- dbSNP
- rs181076765
- Type
- single nucleotide variant
- Location
- chr16:58718247 (GRCh38)
- Gene constraint
- LOEUF 0.591 · pLI 0.49 (gnomAD)
- Structure
- AlphaFold pLDDT 94.77 · 3 PDB
- Residue 217
- a turn
Similar variants
- GOT2 p.Thr217Lys Uncertain significance ★ ⚠ same residue
- GOT2 p.Arg262Gly Likely pathogenic ★★ same type
- GOT2 p.Gly366Val Likely pathogenic ★★ same type
- GOT2 p.Ala89Ser Uncertain significance ★★ ⚠ same type
- GOT2 p.Arg325Gln Uncertain significance ★★ ⚠ same type
- GOT2 p.Asp190Val Uncertain significance ★★ ⚠ same type
- GOT2 p.Asp197Asn Uncertain significance ★★ ⚠ same type
- GOT2 p.Gln357Glu 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/got2-p-thr217 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown