MAP4 p.Ala437=
c.1311T>C · rs200436355 · VCV3048980
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0614%, afr)
Conditions
1
MAP4-related disorder
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 0.23 | GERP -3.1 |
| Overall | ||
| CADD | 2.844 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0614%
African / African-American · 46/74,944 alleles
Filtering AF
0.0472%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0423%
Overall
0.0039%
63/1,613,852 alleles · ultra-rare
exomes 26/1,461,786 · genomes 37/152,066 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.0614% | 1,629 |
| Middle Eastern | 0.0165% | 6,058 |
| Admixed American | 0.015% | 6,667 |
| Remaining individualsnot grpmax-eligible | 0.0096% | 10,416 |
| European (non-Finnish) | 8.48e-05% | 1,179,906 |
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
- MAP4
- Protein
- p.Ala437=
- Coding
- c.1311T>C
- MANE Select
- NM_001385682
- dbSNP
- rs200436355
- Type
- single nucleotide variant
- Location
- chr3:47916516 (GRCh38)
- Gene constraint
- LOEUF 0.512 · pLI 0.14 (gnomAD)
- Structure
- AlphaFold pLDDT 43.03
- Residue 437
- the '17 x 14 aa tandem repeats' region
Disease context
MAP4-related disorder
Similar variants
- MAP4 c.292+2409G>A Likely benign same condition
- MAP4 c.*100G>A Likely benign same condition
- MAP4 c.*44G>A Likely benign same condition
- MAP4 p.Ala2123= Likely benign same condition
- MAP4 p.Ala2134= Likely benign same condition
- MAP4 p.Arg23Gln Benign same condition
- MAP4 p.Arg23Trp Likely benign ⚠ same condition
- MAP4 p.Asn569= Likely benign same condition
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/map4-p-ala437 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown