MAP4 p.Val37=
c.111T>C · rs148194575 · VCV778072
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
rare (popmax 0.792%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.17 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 0.39 | GERP -2.8, phastCons 0.66 |
| Overall | ||
| CADD | 6.284 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.792%
African / African-American · 594/75,016 alleles
Filtering AF
0.739%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.718%
Overall
0.0518%
836/1,614,028 alleles · rare
exomes 469/1,461,758 · genomes 367/152,270 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.792% | 126 |
| Middle Eastern | 0.132% | 758 |
| Admixed American | 0.103% | 968 |
| Remaining individualsnot grpmax-eligible | 0.0672% | 1,488 |
| Ashkenazi Jewishnot grpmax-eligible | 0.0608% | 1,645 |
| South Asian | 0.0165% | 6,072 |
| European (non-Finnish) | 0.00822% | 12,164 |
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.Val37=
- Coding
- c.111T>C
- MANE Select
- NM_001385682
- dbSNP
- rs148194575
- Type
- single nucleotide variant
- Location
- chr3:47998750 (GRCh38)
- Gene constraint
- LOEUF 0.512 · pLI 0.14 (gnomAD)
- Structure
- AlphaFold pLDDT 43.03
Similar variants
- MAP4 p.Val37Asp Uncertain significance ★ ⚠ same residue
- MAP4 c.292+9T>G Benign ★★ same type
- MAP4 p.Gln1950= Benign ★★ same type
- MAP4 p.Leu516= Likely benign ★★ same type
- MAP4 p.Ala150Ser Uncertain significance ★ ⚠ same type
- MAP4 p.Ala1922Val Uncertain significance ★ ⚠ same type
- MAP4 p.Ala1926Pro Uncertain significance ★ ⚠ same type
- MAP4 p.Ala1941Thr 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/map4-p-val37 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown