CD93 p.Gly448=
c.1344G>A · rs41471444 · VCV788624
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 4.38%, 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 -3.5 | GERP -3.5 |
| Overall | ||
| CADD | 2.766 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
4.38%
African / African-American · 3,286/75,048 alleles
Filtering AF
4.25%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 4.2%
Overall
0.24%
3,872/1,613,318 alleles · low-frequency
exomes 1,954/1,460,996 · genomes 1,918/152,322 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 4.38% | 23 |
| Admixed American | 0.357% | 280 |
| Remaining individualsnot grpmax-eligible | 0.341% | 293 |
| Middle Eastern | 0.115% | 866 |
| European (non-Finnish) | 0.0126% | 7,919 |
| South Asian | 0.00329% | 30,358 |
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
- CD93
- Protein
- p.Gly448=
- Coding
- c.1344G>A
- MANE Select
- NM_012072
- dbSNP
- rs41471444
- Type
- single nucleotide variant
- Location
- chr20:23084849 (GRCh38)
- Gene constraint
- LOEUF 1.237 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 73.07 · 2 PDB
- Residue 448
- the egf-like 5; calcium-binding domain
Similar variants
- CD93 p.Gly448Val Uncertain significance ★ ⚠ same residue
- CD93 p.Arg496= Benign/Likely benign ★★ same type
- CD93 p.His551= Likely benign ★★ same type
- CD93 p.Pro541Ser Benign/Likely benign ★★ same type
- CD93 p.Ser520Leu Benign ★★ same type
- CD93 p.Thr493Ile Benign/Likely benign ★★ same type
- CD93 p.Val428Leu Benign ★★ same type
- CD93 p.Ala214Val 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/cd93-p-gly448 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown