WEE2 p.Ser70=
c.210G>A · rs62641752 · VCV734043
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.112%, 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 0.15 | GERP 2.3 |
| Overall | ||
| CADD | 9.656 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.112%
European (non-Finnish) · 1,316/1,179,994 alleles
Filtering AF
0.106%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.104%
Overall
0.0845%
1,363/1,613,904 alleles · rare
exomes 1,277/1,461,874 · genomes 86/152,030 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.112% | 897 |
| Remaining individualsnot grpmax-eligible | 0.0352% | 2,840 |
| African / African-American | 0.016% | 6,238 |
| Finnishnot grpmax-eligible | 0.00937% | 10,669 |
| East Asian | 0.00891% | 11,221 |
| Admixed American | 0.005% | 19,996 |
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
- WEE2
- Protein
- p.Ser70=
- Coding
- c.210G>A
- MANE Select
- NM_001105558
- dbSNP
- rs62641752
- Type
- single nucleotide variant
- Location
- chr7:141708968 (GRCh38)
- Gene constraint
- LOEUF 1.031 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 67.50 · 1 PDB
- Residue 70
- the 'disordered' region
Similar variants
- WEE2 p.Ser70Leu Uncertain significance ★ ⚠ same residue
- WEE2 p.Gly357Arg Uncertain significance ★★ ⚠ same type
- WEE2 p.Ile417Thr Uncertain significance ★★ same type
- WEE2 p.Tyr526Asp Benign/Likely benign ★★ same type
- WEE2 p.Gln288Ter Pathogenic ★ same type
- WEE2 c.585+3A>G Uncertain significance ★ same type
- WEE2 p.Ala194Asp Uncertain significance ★ ⚠ same type
- WEE2 p.Ala300Val 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/wee2-p-ser70 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown