MAP2K7 p.Pro215=
c.645C>A · rs117765980 · VCV710280
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.691%, nfe)
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 -20 | GERP -3.1 |
| Overall | ||
| CADD | 0.06 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.691%
European (non-Finnish) · 8,149/1,179,218 alleles
Filtering AF
0.678%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.673%
Overall
0.578%
9,303/1,610,106 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.691% | 145 |
| Remaining individualsnot grpmax-eligible | 0.565% | 177 |
| South Asian | 0.455% | 220 |
| Admixed American | 0.324% | 308 |
| African / African-American | 0.134% | 748 |
| Ashkenazi Jewishnot grpmax-eligible | 0.098% | 1,020 |
| Finnishnot grpmax-eligible | 0.0971% | 1,029 |
| Middle Eastern | 0.0661% | 1,514 |
| East Asian | 0.00229% | 43,720 |
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.Pro215=
- Coding
- c.645C>A
- MANE Select
- NM_145185
- dbSNP
- rs117765980
- Type
- single nucleotide variant
- Location
- chr19:7910773 (GRCh38)
- Gene constraint
- LOEUF 0.454 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 77.94 · 37 PDB
- Residue 215
- the protein kinase domain; an α-helix
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.Ser277= Benign ★★ same type
- MAP2K7 p.Ala391Val Uncertain significance ★ same type
- MAP2K7 p.Ala399Val Uncertain significance ★ ⚠ same type
- MAP2K7 p.Arg12Leu 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-pro215 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown