MAP1A p.Pro2636=
c.7908T>C · rs373359245 · VCV724688
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.33%, 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 0.61 | GERP -0.51, phastCons 0.38 |
| Overall | ||
| CADD | 8.773 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.33%
Middle Eastern · 20/6,062 alleles
Filtering AF
0.219%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.183%
Overall
0.00985%
159/1,613,902 alleles · rare
exomes 141/1,461,666 · genomes 18/152,236 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.33% | 303 |
| Remaining individualsnot grpmax-eligible | 0.0144% | 6,945 |
| European (non-Finnish) | 0.01% | 10,000 |
| Admixed American | 0.00833% | 12,005 |
| African / African-American | 0.00533% | 18,756 |
| South Asian | 0.00329% | 30,361 |
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
- MAP1A
- Protein
- p.Pro2636=
- Coding
- c.7908T>C
- MANE Select
- NM_002373
- dbSNP
- rs373359245
- Type
- single nucleotide variant
- Location
- chr15:43529381 (GRCh38)
- Structure
- AlphaFold pLDDT 94.44 · 41 PDB
Similar variants
- MAP1A p.Arg2734Gln Uncertain significance ★★ same type
- MAP1A p.Gly567Ala Uncertain significance ★★ ⚠ same type
- MAP1A p.Gly482= Benign/Likely benign ★★ same type
- MAP1A p.Leu1621Val Benign ★★ same type
- MAP1A p.Ser1152= Likely benign ★★ same type
- MAP1A p.Ser1311= Benign/Likely benign ★★ same type
- MAP1A p.Ser1544= Benign ★★ same type
- MAP1A p.Ser1858Cys Likely 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/map1a-p-pro2636 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown