MAP1B p.Lys671=
c.2013G>A · rs186623571 · VCV777395
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1%, eas)
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 1.6 | GERP -3.3, phastCons 1 |
| Overall | ||
| CADD | 3.76 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1%
East Asian · 435/43,424 alleles
Filtering AF
0.924%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.893%
Overall
0.119%
1,875/1,575,538 alleles · low-frequency
exomes 1,624/1,424,346 · genomes 251/151,192 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 1% | 100 |
| Admixed American | 0.981% | 102 |
| Finnishnot grpmax-eligible | 0.796% | 126 |
| Remaining individualsnot grpmax-eligible | 0.131% | 763 |
| Middle Eastern | 0.0506% | 1,977 |
| European (non-Finnish) | 0.027% | 3,701 |
| African / African-American | 0.0249% | 4,022 |
| South Asian | 0.0239% | 4,192 |
| Ashkenazi Jewishnot grpmax-eligible | 0.0175% | 5,730 |
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
- MAP1B
- Protein
- p.Lys671=
- Coding
- c.2013G>A
- MANE Select
- NM_005909
- dbSNP
- rs186623571
- Type
- single nucleotide variant
- Location
- chr5:72195368 (GRCh38)
- Gene constraint
- LOEUF 0.105 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 46.18
- Residue 671
- the 'disordered' region; a UniProt-annotated variant site (in pvnh9)
Similar variants
- MAP1B p.Lys671Thr Uncertain significance ★ ⚠ same residue
- MAP1B p.Arg1664Ter Pathogenic/Likely pathogenic ★★ same type
- MAP1B p.Arg2140Ter Pathogenic ★★ same type
- MAP1B p.Arg303Ter Pathogenic/Likely pathogenic ★★ same type
- MAP1B p.Arg85Ter Pathogenic/Likely pathogenic ★★ same type
- MAP1B p.Arg999Ter Pathogenic/Likely pathogenic ★★ same type
- MAP1B p.Ala966Val Uncertain significance ★★ ⚠ same type
- MAP1B p.Arg1399Cys 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/map1b-p-lys671 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown