Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
low-frequency (popmax 2.41%, eas)
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 -0.71 | GERP -3.5 |
| Overall | ||
| CADD | 7.455 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.41%
East Asian · 1,082/44,862 alleles
Filtering AF
2.29%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 2.24%
Overall
0.0835%
1,345/1,611,328 alleles · low-frequency
exomes 1,232/1,459,082 · genomes 113/152,246 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 2.41% | 41 |
| South Asian | 0.188% | 532 |
| Remaining individualsnot grpmax-eligible | 0.0849% | 1,177 |
| Middle Eastern | 0.0495% | 2,019 |
| African / African-American | 0.0213% | 4,687 |
| Admixed American | 0.00167% | 59,988 |
| European (non-Finnish) | 0.00161% | 61,975 |
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
- MAPK1
- Protein
- p.Asp321=
- Coding
- c.963C>T
- MANE Select
- NM_002745
- dbSNP
- rs1803545
- Type
- single nucleotide variant
- Location
- chr22:21772876 (GRCh38)
- Gene constraint
- LOEUF 0.377 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 90.99 · 157 PDB
- Residue 321
- an α-helix
Similar variants
- MAPK1 p.Ala174Val Pathogenic ★★ ⚠ same type
- MAPK1 p.Arg135Thr Likely pathogenic ★★ same type
- MAPK1 p.Asp318Asn Pathogenic/Likely pathogenic ★★ same type
- MAPK1 p.Asp318Gly Pathogenic ★★ same type
- MAPK1 p.Glu322Gln Pathogenic/Likely pathogenic ★★ same type
- MAPK1 p.His80Tyr Pathogenic ★★ same type
- MAPK1 p.Asn27Asp Uncertain significance ★★ ⚠ same type
- MAPK1 p.Ala325= Likely benign ★★ 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/mapk1-p-asp321 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown