ACD p.Gln145His
c.435G>C · VCV3261533
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
AlphaMissense
ambiguous
0.5636 · ACMG-weighted
gnomAD v4.1
Absent
absent from gnomAD v4.1
Missense predictors
1/2 damaging
REVEL, SaProt · AlphaMissense no call
Conditions
1
Inborn genetic diseases
Computational evidence
| Protein change | ||
| AlphaMissense | 0.5636 | ambiguous |
|---|---|---|
| REVEL | 0.073 | moderately benign-leaning |
| SaProt | LLR -10.74 | damaging |
| ⇒ SaProt calls this damaging; REVEL does not; AlphaMissense makes no call. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 2.1 | GERP 0.58, phastCons 1 |
| Regional constraint | o/e 0.89 | unconstrained · MANE · 2,611 bp · p 0.011 · regional, not allelic |
| Overall | ||
| CADD | 23.3 | PHRED · no single calibrated threshold — expert panels disagree |
AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.
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
- ACD
- Protein
- p.Gln145His
- Coding
- c.435G>C
- MANE Select
- NM_001082486
- Type
- single nucleotide variant
- Location
- chr16:67659398 (GRCh38)
- Gene constraint
- LOEUF 0.921 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 63.09 · 28 PDB
- Residue 145
- an α-helix
Similar variants
- ACD c.-20C>T Uncertain significance ★★ same condition
- ACD c.-26T>G Uncertain significance ★★ same condition
- ACD c.-29C>A Uncertain significance ★★ same condition
- ACD c.-30C>T Uncertain significance ★★ same condition
- ACD c.-35C>T Uncertain significance ★★ same condition
- ACD c.-36C>G Uncertain significance ★★ same condition
- ACD c.-9G>T Uncertain significance ★★ same condition
- ACD p.Ala114Ser Uncertain significance ★★ ⚠ 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/acd-p-gln145his (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown