DRC4 p.Gln333=
c.999G>A · VCV4850826
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 2.9 | phastCons 1 |
| Overall | ||
| CADD | 3.165 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Remaining individualsnot grpmax-eligible | 0.0032% | 31,251 |
| African / African-Americangrpmax | 0.00133% | 75,072 |
Remaining individuals shows a higher raw frequency than the grpmax group above it. gnomAD excludes bottlenecked groups — Finnish, Ashkenazi Jewish, Amish and “Remaining individuals” — from grpmax, because founder effects make their frequencies unrepresentative for filtering. The table is sorted by frequency, so an excluded group can sit above the grpmax row.
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
- DRC4
- Protein
- p.Gln333=
- Coding
- c.999G>A
- MANE Select
- NM_001481
- Type
- single nucleotide variant
- Location
- chr16:90037836 (GRCh38)
- Structure
- AlphaFold pLDDT 85.12 · 1 PDB
- Residue 333
- a UniProt-annotated variant site (in cild33; loss of localization to cilia; abnormal cilia with axonemal disorganization)
Similar variants
- DRC4 c.495+1G>T Likely pathogenic ★★ same type
- DRC4 p.Gln357Ter Pathogenic ★★ same type
- DRC4 p.Ala280Thr Uncertain significance ★★ ⚠ same type
- DRC4 p.Ala460Pro Uncertain significance ★★ ⚠ same type
- DRC4 p.Arg143Trp Uncertain significance ★★ ⚠ same type
- DRC4 p.Arg164Trp Uncertain significance ★★ ⚠ same type
- DRC4 p.Arg203Gln Uncertain significance ★★ ⚠ same type
- DRC4 p.Arg278Cys Uncertain significance ★★ ⚠ 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/drc4-p-gln333 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown