MAP4K4 p.Glu984=
c.2952G>A · VCV3372608
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| Splicing | ||
| SpliceAI | Δ0.53 | donor loss · deltas |
|---|---|---|
| Pangolin | Δ0.69 | loss · gain 0.02 · agrees with SpliceAI · independent |
| Constraint at this position | ||
| Conservation | phyloP 12 | GERP 1.4, phastCons 1 |
| Overall | ||
| CADD | 17.95 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- MAP4K4
- Protein
- p.Glu984=
- Coding
- c.2952G>A
- MANE Select
- NM_001395002
- Type
- single nucleotide variant
- Location
- chr2:101871685 (GRCh38)
- Gene constraint
- LOEUF 0.308 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 66.47 · 19 PDB
- Residue 984
- the cnh domain; the 'mediates interaction with rap2a' region
Similar variants
- MAP4K4 p.Arg1329Ter Pathogenic/Likely pathogenic ★★ same type
- MAP4K4 p.Ala491Pro Uncertain significance ★★ ⚠ same type
- MAP4K4 p.Arg1135Cys Uncertain significance ★★ ⚠ same type
- MAP4K4 p.Leu742Pro Uncertain significance ★★ ⚠ same type
- MAP4K4 p.Ser758Phe Uncertain significance ★★ ⚠ same type
- MAP4K4 c.1022+125A>G Benign ★★ same type
- MAP4K4 c.123+57A>G Benign ★★ same type
- MAP4K4 c.1234-81C>G Benign ★★ 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/map4k4-p-glu984 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown