MAPK10 p.Asn360=
c.1080C>T · rs61747621 · VCV349949
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
low-frequency (popmax 1.27%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.43 | indeterminate |
|---|---|---|
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
| Constraint at this position | ||
| Conservation | phyloP -2.2 | GERP -5.7 |
| Overall | ||
| CADD | 7.685 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.27%
African / African-American · 953/75,038 alleles
Filtering AF
1.2%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.18%
Overall
0.0779%
1,257/1,614,134 alleles · low-frequency
exomes 655/1,461,866 · genomes 602/152,268 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1.27% | 79 |
| Admixed American | 0.168% | 594 |
| Remaining individualsnot grpmax-eligible | 0.115% | 868 |
| Middle Eastern | 0.099% | 1,010 |
| South Asian | 0.0253% | 3,960 |
| European (non-Finnish) | 0.00839% | 11,919 |
| East Asian | 0.00446% | 22,437 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00338% | 29,598 |
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
- MAPK10
- Protein
- p.Asn360=
- Coding
- c.1080C>T
- MANE Select
- NM_138982
- dbSNP
- rs61747621
- Type
- single nucleotide variant
- Location
- chr4:86064296 (GRCh38)
- Gene constraint
- LOEUF 0.54 · pLI 0.91 (gnomAD)
- Structure
- AlphaFold pLDDT 80.50 · 65 PDB
- Residue 360
- a turn
Similar variants
- MAPK10 p.Ala320= Benign ★★ same type
- MAPK10 p.Asp351= Benign ★★ same type
- MAPK10 p.Val113= Benign/Likely benign ★★ same type
- MAPK10 p.Ala353Thr Uncertain significance ★ ⚠ same type
- MAPK10 p.Asn89Ser Uncertain significance ★ ⚠ same type
- MAPK10 p.Asp141Glu Uncertain significance ★ ⚠ same type
- MAPK10 p.Asp267Gly Uncertain significance ★ ⚠ same type
- MAPK10 p.Asp315Asn 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/mapk10-p-asn360 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown