GOT2 p.Asn117=
c.351C>T · rs150842866 · VCV1599384
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
rare (popmax 0.422%, afr)
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 2.9 | GERP -1.4, phastCons 1 |
| Overall | ||
| CADD | 10.2 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.422%
African / African-American · 316/74,960 alleles
Filtering AF
0.383%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.368%
Overall
0.0241%
388/1,612,232 alleles · rare
exomes 172/1,459,952 · genomes 216/152,280 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.422% | 237 |
| Admixed American | 0.05% | 2,001 |
| Remaining individualsnot grpmax-eligible | 0.0369% | 2,711 |
| Middle Eastern | 0.0221% | 4,534 |
| South Asian | 0.0044% | 22,752 |
| European (non-Finnish) | 0.00119% | 84,284 |
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.Asn117=
- Coding
- c.351C>T
- MANE Select
- NM_002080
- dbSNP
- rs150842866
- Type
- single nucleotide variant
- Location
- chr16:58722174 (GRCh38)
- Gene constraint
- LOEUF 0.591 · pLI 0.49 (gnomAD)
- Structure
- AlphaFold pLDDT 94.77 · 3 PDB
Similar variants
- 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
- GOT2 p.Gln372Arg 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-asn117 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown