MAP2K7 p.Cys202=
c.606C>T · rs35139435 · VCV710676
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
low-frequency (popmax 1.13%, 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 -8.5 | GERP -3.1 |
| Overall | ||
| CADD | 1.692 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.13%
African / African-American · 844/74,972 alleles
Filtering AF
1.06%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.04%
Overall
0.0841%
1,355/1,611,708 alleles · low-frequency
exomes 802/1,459,366 · genomes 553/152,342 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1.13% | 89 |
| Ashkenazi Jewishnot grpmax-eligible | 0.294% | 340 |
| Admixed American | 0.185% | 539 |
| Middle Eastern | 0.165% | 606 |
| Remaining individualsnot grpmax-eligible | 0.12% | 832 |
| European (non-Finnish) | 0.0185% | 5,410 |
| South Asian | 0.0088% | 11,360 |
| East Asian | 0.00223% | 44,802 |
| Finnishnot grpmax-eligible | 0.00159% | 62,828 |
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
- MAP2K7
- Protein
- p.Cys202=
- Coding
- c.606C>T
- MANE Select
- NM_145185
- dbSNP
- rs35139435
- Type
- single nucleotide variant
- Location
- chr19:7910734 (GRCh38)
- Gene constraint
- LOEUF 0.454 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 77.94 · 37 PDB
- Residue 202
- the protein kinase domain; a β-strand
Similar variants
- MAP2K7 c.855+10G>C Benign ★★ same type
- MAP2K7 c.856-19T>C Benign ★★ same type
- MAP2K7 c.856-8C>G Benign ★★ same type
- MAP2K7 p.Cys131= Benign ★★ same type
- MAP2K7 p.Pro215= Benign ★★ same type
- MAP2K7 p.Ser277= Benign ★★ same type
- MAP2K7 p.Ala391Val Uncertain significance ★ same type
- MAP2K7 p.Ala399Val 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/map2k7-p-cys202 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown