MAPK8 p.Ser97=
c.291C>T · rs55740545 · VCV725202
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
low-frequency (popmax 1.37%, 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 0.4 | GERP -3.6, phastCons 0.99 |
| Overall | ||
| CADD | 7.502 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.37%
East Asian · 613/44,804 alleles
Filtering AF
1.28%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.24%
Overall
0.0451%
726/1,611,332 alleles · low-frequency
exomes 628/1,459,254 · genomes 98/152,078 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 1.37% | 73 |
| Remaining individualsnot grpmax-eligible | 0.0946% | 1,058 |
| South Asian | 0.043% | 2,323 |
| African / African-American | 0.00668% | 14,976 |
| Admixed American | 0.00501% | 19,962 |
| European (non-Finnish) | 0.000594% | 168,327 |
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.Ser97=
- Coding
- c.291C>T
- MANE Select
- NM_001323329
- dbSNP
- rs55740545
- Type
- single nucleotide variant
- Location
- chr10:48409917 (GRCh38)
- Gene constraint
- LOEUF 0.532 · pLI 0.95 (gnomAD)
- Structure
- AlphaFold pLDDT 83.75 · 41 PDB
- Residue 97
- the protein kinase domain; a β-strand
Similar variants
- MAPK8 c.123-51A>C Benign ★★ same type
- MAPK8 c.253-80T>A Benign ★★ same type
- MAPK8 c.311+37A>G Benign ★★ same type
- MAPK8 c.450+141T>G Benign ★★ same type
- MAPK8 c.689-56T>A Benign ★★ same type
- MAPK8 c.997-51T>A Benign ★★ same type
- MAPK8 c.-49-77C>A Benign ★★ same type
- MAPK8 p.Trp352Ter 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/mapk8-p-ser97 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown