CD55 p.Leu367=
c.1099T>C · rs375489214 · VCV1903270
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
very rare (popmax 0.00968%, afr)
Conditions
1
Inborn genetic diseases
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.035 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -1.8 | GERP -2.3 |
| Overall | ||
| CADD | 0.514 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00968%
African / African-American · 7/72,290 alleles
Filtering AF
0.00451%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00318%
Overall
0.000441%
7/1,587,190 alleles · very rare
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
- CD55
- Protein
- p.Leu367=
- Coding
- c.1099T>C
- MANE Select
- NM_000574
- dbSNP
- rs375489214
- Type
- single nucleotide variant
- Location
- chr1:207359563 (GRCh38)
- Gene constraint
- LOEUF 1.234 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 78.99 · 33 PDB
Similar variants
- CD55 p.Arg221Ser Uncertain significance ★★ ⚠ same condition
- CD55 p.Asn171Ser Uncertain significance ★★ ⚠ same condition
- CD55 p.Asn44Asp Uncertain significance ★★ ⚠ same condition
- CD55 p.Glu273Gly Uncertain significance ★★ ⚠ same condition
- CD55 p.His339Asn Uncertain significance ★★ ⚠ same condition
- CD55 p.Leu374Val Uncertain significance ★★ ⚠ same condition
- CD55 p.Met377Thr Uncertain significance ★★ ⚠ same condition
- CD55 p.Met377Val Uncertain significance ★★ ⚠ same condition
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/cd55-p-leu367 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown