SHANK2 p.Phe191Ser
c.572T>C · rs2501953638 · VCV2409485
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
Inborn genetic diseases
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.094 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 11 | GERP 1.4, phastCons 1 |
| Regional constraint | o/e 1.16 | unconstrained · MANE · 486 kb · p 0.00016 · regional, not allelic |
| Overall | ||
| CADD | 24.6 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- SHANK2
- Protein
- p.Phe191Ser
- Coding
- c.572T>C
- MANE Select
- NM_012309
- dbSNP
- rs2501953638
- Type
- single nucleotide variant
- Location
- chr11:71109961 (GRCh38)
- Gene constraint
- LOEUF 0.417 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 52.58 · 2 PDB
Similar variants
- SHANK2 p.Arg227Cys Uncertain significance ★★ same condition
- SHANK2 p.Arg783His Uncertain significance ★★ ⚠ same condition
- SHANK2 p.Glu1183Lys Uncertain significance ★★ ⚠ same condition
- SHANK2 p.Pro1446Leu Uncertain significance ★★ ⚠ same condition
- SHANK2 p.Pro44Leu Uncertain significance ★★ same condition
- SHANK2 p.Ser884Phe Uncertain significance ★★ same condition
- SHANK2 p.Arg111His Likely benign ★★ same condition
- SHANK2 p.Ile1361= Likely benign ★★ same condition
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/shank2-p-phe191ser (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown