DCPS p.His268=
c.804C>T · rs142492066 · VCV749774
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
rare (popmax 0.662%, afr)
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 0.75 | GERP 0.74, phastCons 1 |
| Overall | ||
| CADD | 7.542 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.662%
African / African-American · 497/75,074 alleles
Filtering AF
0.614%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.595%
Overall
0.0364%
588/1,614,218 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.662% | 151 |
| Remaining individualsnot grpmax-eligible | 0.08% | 1,250 |
| Admixed American | 0.0583% | 1,715 |
| South Asian | 0.0022% | 45,545 |
| European (non-Finnish) | 0.000339% | 295,009 |
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.His268=
- Coding
- c.804C>T
- MANE Select
- NM_014026
- dbSNP
- rs142492066
- Type
- single nucleotide variant
- Location
- chr11:126345403 (GRCh38)
- Gene constraint
- LOEUF 1 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 89.18 · 11 PDB
- Residue 268
- a binding site; a β-strand
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.Asp324= Likely 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-his268 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown