MAPT p.Ser307=
c.921C>G · rs147885393 · VCV1198851
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0561%, afr)
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 -0.94 | GERP -0.24 |
| Overall | ||
| CADD | 1.435 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0561%
African / African-American · 42/74,896 alleles
Filtering AF
0.0426%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0379%
Overall
0.00279%
45/1,612,220 alleles · ultra-rare
exomes 22/1,460,062 · genomes 23/152,158 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.0561% | 1,783 |
| Admixed American | 0.00333% | 29,986 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,412 |
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
- MAPT
- Protein
- p.Ser307=
- Coding
- c.921C>G
- MANE Select
- NM_001377265
- dbSNP
- rs147885393
- Type
- single nucleotide variant
- Location
- chr17:45983500 (GRCh38)
- Gene constraint
- LOEUF 0.723 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 49.56 · 299 PDB
- Residue 307
- the 'disordered' region
Similar variants
- MAPT c.1999-10G>T Pathogenic ★★ same type
- MAPT c.2091+16C>T Pathogenic ★★ same type
- MAPT c.2091+3G>A Pathogenic ★★ same type
- MAPT p.Arg798Trp Pathogenic ★★ ⚠ same type
- MAPT p.Asn671Lys Pathogenic ★★ ⚠ same type
- MAPT p.Asn688= Pathogenic ★★ same type
- MAPT p.Gln728His Pathogenic/Likely pathogenic ★★ ⚠ same type
- MAPT p.Gly727Ser Pathogenic/Likely pathogenic ★★ 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/mapt-p-ser307 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown