MAPK8IP3 p.Ser985=
c.2955G>A · rs117342699 · VCV1694773
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.14%, mid)
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 -8.6 | GERP -4.7 |
| Overall | ||
| CADD | 0.101 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.14%
Middle Eastern · 69/6,062 alleles
Filtering AF
0.978%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.972%
Overall
0.895%
14,431/1,612,820 alleles · low-frequency
exomes 13,430/1,460,508 · genomes 1,001/152,312 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 1.14% | 88 |
| Finnishnot grpmax-eligible | 1.09% | 92 |
| European (non-Finnish) | 0.993% | 101 |
| South Asian | 0.953% | 105 |
| Ashkenazi Jewishnot grpmax-eligible | 0.899% | 111 |
| Remaining individualsnot grpmax-eligible | 0.84% | 119 |
| Admixed American | 0.298% | 335 |
| African / African-American | 0.157% | 636 |
| East Asian | 0.00446% | 22,432 |
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
- MAPK8IP3
- Protein
- p.Ser985=
- Coding
- c.2955G>A
- MANE Select
- NM_001318852
- dbSNP
- rs117342699
- Type
- single nucleotide variant
- Location
- chr16:1766738 (GRCh38)
- Gene constraint
- LOEUF 0.407 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 63.19 · 5 PDB
- Residue 985
- a UniProt-annotated variant site (in nedba)
Similar variants
- MAPK8IP3 p.Ser985Leu Uncertain significance ★ ⚠ same residue
- MAPK8IP3 p.Arg1147Cys Pathogenic/Likely pathogenic ★★ same type
- MAPK8IP3 p.Arg579Cys Pathogenic/Likely pathogenic ★★ same type
- MAPK8IP3 p.Gln468Ter Pathogenic/Likely pathogenic ★★ same type
- MAPK8IP3 p.Glu27Ter Likely pathogenic ★★ same type
- MAPK8IP3 p.Glu462Gly Likely pathogenic ★★ same type
- MAPK8IP3 p.Leu445Pro Likely pathogenic ★★ same type
- MAPK8IP3 p.Tyr37Ter Likely pathogenic ★★ 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/mapk8ip3-p-ser985 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown