GOT2 p.Ser118=
c.354C>T · rs75336120 · VCV777034
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Common
common (popmax 7.42%, afr) — too common for a highly-penetrant pathogenic allele
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 -2.7 | GERP -3.7 |
| Overall | ||
| CADD | 6.854 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
7.42%
African / African-American · 5,559/74,904 alleles
Filtering AF
7.26%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 7.19%
Overall
0.397%
6,403/1,612,070 alleles · common
exomes 3,160/1,459,858 · genomes 3,243/152,212 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 7.42% | 13 |
| Admixed American | 0.55% | 182 |
| Remaining individualsnot grpmax-eligible | 0.549% | 182 |
| Middle Eastern | 0.155% | 645 |
| South Asian | 0.0198% | 5,056 |
| European (non-Finnish) | 0.0124% | 8,082 |
| East Asian | 0.00223% | 44,870 |
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.Ser118=
- Coding
- c.354C>T
- MANE Select
- NM_002080
- dbSNP
- rs75336120
- Type
- single nucleotide variant
- Location
- chr16:58722171 (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-ser118 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown