MAP2 p.Thr216=
c.648G>A · VCV4959557
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Common
common (popmax 54.7%, afr) — too common for a highly-penetrant pathogenic allele
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 1.4 | GERP -4.8, phastCons 0.47 |
| Overall | ||
| CADD | 8.745 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
54.7%
African / African-American · 40,866/74,748 alleles
Filtering AF
54.2%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 54%
Overall
12.8%
205,875/1,612,562 alleles · common
exomes 170,354/1,460,556 · genomes 35,521/152,006 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 54.7% | 2 |
| East Asian | 22.8% | 4 |
| Middle Eastern | 15.6% | 6 |
| South Asian | 15.3% | 7 |
| Remaining individualsnot grpmax-eligible | 14.2% | 7 |
| Ashkenazi Jewishnot grpmax-eligible | 12.2% | 8 |
| Finnishnot grpmax-eligible | 11.2% | 9 |
| Admixed American | 10.9% | 9 |
| European (non-Finnish) | 9.65% | 10 |
| Amishnot grpmax-eligible | 6.69% | 15 |
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
- MAP2
- Protein
- p.Thr216=
- Coding
- c.648G>A
- MANE Select
- NM_001375505
- Type
- single nucleotide variant
- Location
- chr2:209692818 (GRCh38)
- Structure
- AlphaFold pLDDT 86.07 · 40 PDB
- Residue 216
- a β-strand
Similar variants
- MAP2 p.Ala1074Thr Uncertain significance ★★ ⚠ same type
- MAP2 p.Ala752Ser Uncertain significance ★★ ⚠ same type
- MAP2 p.Arg1715His Uncertain significance ★★ ⚠ same type
- MAP2 p.Val1359Ala Uncertain significance ★★ ⚠ same type
- MAP2 p.Ala414Ser Benign/Likely benign ★★ same type
- MAP2 p.Asp679= Benign ★★ same type
- MAP2 p.Gln1760= Benign/Likely benign ★★ same type
- MAP2 p.Glu1129= 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/map2-p-thr216 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown