MAPKAPK2 p.His267=
c.801C>T · rs141422074 · VCV729104
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.132%, afr)
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 -20 | GERP -5.1 |
| Overall | ||
| CADD | 0.204 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.132%
African / African-American · 99/75,050 alleles
Filtering AF
0.111%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.103%
Overall
0.0105%
169/1,614,210 alleles · rare
exomes 114/1,461,892 · genomes 55/152,318 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.132% | 758 |
| Remaining individualsnot grpmax-eligible | 0.0368% | 2,718 |
| Middle Eastern | 0.033% | 3,031 |
| Admixed American | 0.02% | 5,002 |
| East Asian | 0.00668% | 14,961 |
| European (non-Finnish) | 0.00246% | 40,691 |
| South Asian | 0.0011% | 91,086 |
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
- MAPKAPK2
- Protein
- p.His267=
- Coding
- c.801C>T
- MANE Select
- NM_032960
- dbSNP
- rs141422074
- Type
- single nucleotide variant
- Location
- chr1:206731171 (GRCh38)
- Gene constraint
- LOEUF 0.303 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 83.08 · 31 PDB
- Residue 267
- the protein kinase domain; a β-strand
Similar variants
- MAPKAPK2 p.Pro17= Likely benign ★★ same type
- MAPKAPK2 p.Thr66= Benign ★★ same type
- MAPKAPK2 p.Ala111Val Uncertain significance ★ ⚠ same type
- MAPKAPK2 p.Ala33Gly Uncertain significance ★ ⚠ same type
- MAPKAPK2 p.Ala378Gly Uncertain significance ★ ⚠ same type
- MAPKAPK2 p.Ala390Thr Uncertain significance ★ ⚠ same type
- MAPKAPK2 p.Arg110Trp Uncertain significance ★ ⚠ same type
- MAPKAPK2 p.Arg119Gln 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/mapkapk2-p-his267 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown