MARS2 p.Pro267=
c.801G>C · rs144114997 · VCV392497
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 5 submitters
gnomAD v4.1
Rare
rare (popmax 0.181%, mid)
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 -3.1 |
| Overall | ||
| CADD | 6.511 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.181%
Middle Eastern · 11/6,062 alleles
Filtering AF
0.134%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.126%
Overall
0.0225%
363/1,614,222 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.181% | 551 |
| South Asian | 0.155% | 646 |
| Admixed American | 0.065% | 1,539 |
| Remaining individualsnot grpmax-eligible | 0.0384% | 2,604 |
| European (non-Finnish) | 0.012% | 8,310 |
| Ashkenazi Jewishnot grpmax-eligible | 0.0101% | 9,869 |
| African / African-American | 0.004% | 25,023 |
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.Pro267=
- Coding
- c.801G>C
- MANE Select
- NM_138395
- dbSNP
- rs144114997
- Type
- single nucleotide variant
- Location
- chr2:197706206 (GRCh38)
- Gene constraint
- LOEUF 0.952 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 89.66
Similar variants
- MARS2 p.Pro267Ser Uncertain significance ★ ⚠ same residue
- 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
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-pro267 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown