MARS2 p.Thr4=
c.12G>A · rs114975857 · VCV138169
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 4 submitters
gnomAD v4.1
Rare
low-frequency (popmax 2.34%, 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 -0.95 | GERP -3.5 |
| Overall | ||
| CADD | 0.916 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.34%
African / African-American · 1,758/74,998 alleles
Filtering AF
2.25%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 2.22%
Overall
0.142%
2,282/1,609,940 alleles · low-frequency
exomes 1,247/1,457,598 · genomes 1,035/152,342 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 2.34% | 43 |
| Admixed American | 0.25% | 399 |
| Remaining individualsnot grpmax-eligible | 0.193% | 519 |
| Middle Eastern | 0.0969% | 1,032 |
| European (non-Finnish) | 0.021% | 4,753 |
| South Asian | 0.0011% | 90,928 |
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
- MARS2
- Protein
- p.Thr4=
- Coding
- c.12G>A
- MANE Select
- NM_138395
- dbSNP
- rs114975857
- Type
- single nucleotide variant
- Location
- chr2:197705417 (GRCh38)
- Gene constraint
- LOEUF 0.952 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 89.66
Similar variants
- MARS2 p.Ala141Val Uncertain significance ★★ ⚠ same type
- MARS2 p.Ala402Ser Uncertain significance ★★ ⚠ same type
- MARS2 p.Arg142Trp Uncertain significance ★★ ⚠ same type
- MARS2 p.Arg224Gln Uncertain significance ★★ ⚠ same type
- MARS2 p.Arg409Gly Uncertain significance ★★ ⚠ same type
- MARS2 p.Arg414Ile Uncertain significance ★★ ⚠ same type
- MARS2 p.Arg568Gly Uncertain significance ★★ ⚠ same type
- MARS2 p.Arg592Gln 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/mars2-p-thr4 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown