MAPK8 p.Ser393=
c.1179G>A · rs142330800 · VCV778386
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 2.41%, amr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not looked up on this page · why |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -2.4 | GERP -3.8 |
| Overall | ||
| CADD | 2.379 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.41%
Admixed American · 1,446/59,896 alleles
Filtering AF
2.31%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 2.27%
Overall
0.115%
1,857/1,613,296 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 2.41% | 41 |
| South Asian | 0.135% | 740 |
| Remaining individualsnot grpmax-eligible | 0.12% | 833 |
| Middle Eastern | 0.066% | 1,514 |
| African / African-American | 0.0628% | 1,593 |
| European (non-Finnish) | 0.0136% | 7,373 |
| East Asian | 0.00223% | 44,838 |
| Finnishnot grpmax-eligible | 0.00157% | 63,884 |
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
- MAPK8
- Protein
- p.Ser393=
- Coding
- c.1179G>A
- MANE Select
- NM_001323329
- dbSNP
- rs142330800
- Type
- single nucleotide variant
- Location
- chr10:48434924 (GRCh38)
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/mapk8-p-ser393 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown