CFAP20DC p.Arg362Thr
c.1085G>C · VCV4833896
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| REVEL | 0.198 | benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | Δ0.34 | donor loss, 50 bp away · masked 0 · deltas |
| Pangolin | Δ0.31 | loss · gain 0.00 · agrees with SpliceAI · independent |
| Constraint at this position | ||
| Conservation | phyloP 3.3 | GERP 1.8, phastCons 1 |
| Regional constraint | o/e 1.04 | unconstrained · MANE · 307 kb · p 0.24 · regional, not allelic |
| Overall | ||
| CADD | 25.3 | PHRED · no single calibrated threshold — expert panels disagree |
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
- CFAP20DC
- Protein
- p.Arg362Thr
- Coding
- c.1085G>C
- MANE Select
- NM_001394063
- Type
- single nucleotide variant
- Location
- chr3:58867867 (GRCh38)
- Gene constraint
- LOEUF 0.894 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 53.59
- Residue 362
- the 'disordered' region
Similar variants
- CFAP20DC p.Arg222His Benign ★★ same type
- CFAP20DC p.Gln418Glu Benign/Likely benign ★★ same type
- CFAP20DC p.Ile260= Benign ★★ same type
- CFAP20DC p.Arg201Ter Uncertain significance ★ same type
- CFAP20DC p.Arg295Ter Uncertain significance ★ same type
- CFAP20DC p.Cys136Phe Uncertain significance ★ same type
- CFAP20DC p.Glu462Gln Uncertain significance ★ same type
- CFAP20DC p.His346Pro 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/cfap20dc-p-arg362thr (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown