MADD p.Ser136=
c.408A>T · VCV4873118
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
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 -5.1 | GERP -5 |
| Overall | ||
| CADD | 1.292 | 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
- MADD
- Protein
- p.Ser136=
- Coding
- c.408A>T
- MANE Select
- NM_001376571
- Type
- single nucleotide variant
- Location
- chr11:47274908 (GRCh38)
- Gene constraint
- LOEUF 0.725 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 64.59
- Residue 136
- the udenn domain; the 'disordered' region
Similar variants
- MADD c.2816+1G>A Pathogenic ★★ same type
- MADD p.Arg1532Ter Pathogenic ★★ same type
- MADD p.Arg327Ter Pathogenic/Likely pathogenic ★★ same type
- MADD p.Ala1029Val Uncertain significance ★★ ⚠ same type
- MADD p.Ala165Val Uncertain significance ★★ ⚠ same type
- MADD p.Arg1077Gly Uncertain significance ★★ ⚠ same type
- MADD p.Arg1273His Uncertain significance ★★ ⚠ same type
- MADD p.Arg170His 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/madd-p-ser136 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown