MAPK10 p.Asp351=
c.1053C>T · rs116053658 · VCV349950
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.71%, 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 -6.2 | GERP -5.7 |
| Overall | ||
| CADD | 0.354 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.71%
African / African-American · 1,280/75,036 alleles
Filtering AF
1.63%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.6%
Overall
0.0937%
1,513/1,614,092 alleles · low-frequency
exomes 784/1,461,832 · genomes 729/152,260 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1.71% | 59 |
| Middle Eastern | 0.462% | 216 |
| Admixed American | 0.108% | 923 |
| Remaining individualsnot grpmax-eligible | 0.0976% | 1,025 |
| European (non-Finnish) | 0.00627% | 15,946 |
| South Asian | 0.00439% | 22,770 |
| East Asian | 0.00223% | 44,868 |
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.Asp351=
- Coding
- c.1053C>T
- MANE Select
- NM_138982
- dbSNP
- rs116053658
- Type
- single nucleotide variant
- Location
- chr4:86064323 (GRCh38)
- Gene constraint
- LOEUF 0.54 · pLI 0.91 (gnomAD)
- Structure
- AlphaFold pLDDT 80.50 · 65 PDB
- Residue 351
- the protein kinase domain; an α-helix
Similar variants
- MAPK10 p.Ala320= 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
- MAPK10 p.Cys79Gly 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-asp351 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown