DCPS p.Asp324=
c.972C>T · rs201746166 · VCV795094
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0579%, eas)
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 -12 | GERP -11 |
| Overall | ||
| CADD | 0.316 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0579%
East Asian · 26/44,886 alleles
Filtering AF
0.0405%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0347%
Overall
0.0133%
214/1,613,588 alleles · ultra-rare
exomes 196/1,461,382 · genomes 18/152,206 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.0579% | 1,726 |
| Remaining individualsnot grpmax-eligible | 0.0176% | 5,680 |
| European (non-Finnish) | 0.0136% | 7,329 |
| South Asian | 0.00878% | 11,386 |
| African / African-American | 0.00801% | 12,490 |
| Finnishnot grpmax-eligible | 0.00315% | 31,776 |
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
- DCPS
- Protein
- p.Asp324=
- Coding
- c.972C>T
- MANE Select
- NM_014026
- dbSNP
- rs201746166
- Type
- single nucleotide variant
- Location
- chr11:126345571 (GRCh38)
- Gene constraint
- LOEUF 1 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 89.18 · 11 PDB
Similar variants
- DCPS p.Arg152Ter Likely pathogenic ★★ same type
- DCPS p.Ala184Thr Uncertain significance ★★ ⚠ same type
- DCPS p.Arg145Cys Uncertain significance ★★ ⚠ same type
- DCPS p.Arg242Gly Uncertain significance ★★ ⚠ same type
- DCPS p.Pro235Leu Uncertain significance ★★ ⚠ same type
- DCPS p.Ala186= Benign/Likely benign ★★ same type
- DCPS p.Ala80= Likely benign ★★ same type
- DCPS p.Gln105= Benign ★★ 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/dcps-p-asp324 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown