SDHD p.Ala13Ser
c.37_38delinsAG · VCV4794274
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
3
pheochromocytoma
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.82 | GERP 1.1, phastCons 0.002 |
| Regional constraint | o/e 0.83 | unconstrained · MANE · 8,059 bp · p 0.019 · regional, not allelic |
Variant & gene context
- Gene
- SDHD
- Protein
- p.Ala13Ser
- Coding
- c.37_38delinsAG
- MANE Select
- NM_003002
- Type
- Indel
- Location
- chr11:112086944 (GRCh38)
- Gene constraint
- LOEUF 0.581 · pLI 0.91 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 81.50 · 2 PDB
Similar variants
- SDHD c.315-7_315-5delinsAAA Uncertain significance ★★ same condition
- SDHD p.Ala90Leu Uncertain significance ★★ same condition
- SDHD p.Glu42fs Pathogenic ★ same condition
- SDHD c.53-1_53delinsTT Conflicting classifications of pathogenicity ★ ⚠ same condition
- SDHD p.Asp118Ile Uncertain significance ★ same condition
- SDHD p.Gly108Val Uncertain significance ★ same condition
- SDHD p.Lys158_Leu159delinsAsnPhe Uncertain significance ★ same condition
- SDHD c.170-1G>T Pathogenic ★★ 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/sdhd-p-ala13ser (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown