MAPK3 p.Gly11=
c.33C>G · rs1368575816 · VCV774921
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.08%, 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 1.5 | GERP -2.2, phastCons 1 |
| Overall | ||
| CADD | 14.75 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.08%
African / African-American · 283/26,134 alleles
Filtering AF
0.979%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.939%
Overall
0.448%
2,753/614,968 alleles · low-frequency
exomes 1,694/559,854 · genomes 1,059/55,114 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1.08% | 92 |
| Finnishnot grpmax-eligible | 0.754% | 133 |
| Admixed American | 0.553% | 181 |
| Remaining individualsnot grpmax-eligible | 0.468% | 213 |
| Ashkenazi Jewishnot grpmax-eligible | 0.442% | 226 |
| South Asian | 0.438% | 228 |
| East Asian | 0.403% | 248 |
| European (non-Finnish) | 0.391% | 255 |
| Amishnot grpmax-eligible | 0.35% | 286 |
| Middle Eastern | 0.0971% | 1,030 |
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
- MAPK3
- Protein
- p.Gly11=
- Coding
- c.33C>G
- MANE Select
- NM_002746
- dbSNP
- rs1368575816
- Type
- single nucleotide variant
- Location
- chr16:30123177 (GRCh38)
- Gene constraint
- LOEUF 0.935 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 89.09 · 8 PDB
- Residue 11
- the 'disordered' region
Similar variants
- MAPK3 p.Pro336= Benign/Likely benign ★★ same type
- MAPK3 p.Tyr148Cys Likely pathogenic ★ same type
- MAPK3 p.Ala378Asp Uncertain significance ★ ⚠ same type
- MAPK3 p.Arg15Ser Uncertain significance ★ ⚠ same type
- MAPK3 p.Arg242Gln Uncertain significance ★ ⚠ same type
- MAPK3 p.Arg309Gln Uncertain significance ★ ⚠ same type
- MAPK3 p.Arg309Gly Uncertain significance ★ ⚠ same type
- MAPK3 p.Arg370Cys 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/mapk3-p-gly11 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown