DST p.Arg22Gln
c.65G>A · rs749722200 · VCV541457
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.077 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 4 | GERP 2, phastCons 1 |
| Regional constraint | o/e 0.81 | unconstrained · MANE · 320 kb · p 2.5e-12 · regional, not allelic |
| Overall | ||
| CADD | 17.48 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.0493% | 2,028 |
| European (non-Finnish) | 0.0136% | 7,375 |
| Admixed American | 0.01% | 9,998 |
| Remaining individualsnot grpmax-eligible | 0.0096% | 10,415 |
| East Asian | 0.00446% | 22,446 |
| African / African-American | 0.00267% | 37,463 |
| South Asian | 0.0011% | 91,074 |
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
- DST
- Protein
- p.Arg22Gln
- Coding
- c.65G>A
- MANE Select
- NM_001374736 · reported on NM_001723
- dbSNP
- rs749722200
- Type
- single nucleotide variant
- Location
- chr6:56642724 (GRCh38)
- Gene constraint
- LOEUF 0.297 · pLI 1.00 (gnomAD)
Disease context
hereditary sensory and autonomic neuropathy type 6 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsAlso linked: epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
For Hereditary sensory and autonomic neuropathy type 6 (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- Infancy, Neonatal
Similar variants
- DST p.Arg22Ter Likely pathogenic ★★ same residue
- DST p.Arg22Pro Uncertain significance ★ same residue
- DST c.22959+1G>A Likely pathogenic ★★ same condition
- DST p.Arg1512Ter Pathogenic/Likely pathogenic ★★ same condition
- DST p.Arg1696Ter Pathogenic/Likely pathogenic ★★ same condition
- DST p.Arg7329Ter Pathogenic ★★ same condition
- DST p.Cys1828Ter Pathogenic/Likely pathogenic ★★ same condition
- DST p.Gln1124Ter Pathogenic/Likely 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/dst-p-arg22gln (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown