CLEC14A p.Ser395=
c.1185C>T · rs78287081 · VCV790141
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 2.94%, 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 0.57 | GERP -2.4, phastCons 0.99 |
| Overall | ||
| CADD | 4.575 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.94%
African / African-American · 2,204/74,984 alleles
Filtering AF
2.84%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 2.8%
Overall
0.154%
2,474/1,606,934 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 2.94% | 34 |
| Remaining individualsnot grpmax-eligible | 0.233% | 429 |
| Admixed American | 0.159% | 630 |
| Middle Eastern | 0.0826% | 1,211 |
| South Asian | 0.0033% | 30,305 |
| European (non-Finnish) | 0.00187% | 53,345 |
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
- CLEC14A
- Protein
- p.Ser395=
- Coding
- c.1185C>T
- MANE Select
- NM_175060
- dbSNP
- rs78287081
- Type
- single nucleotide variant
- Location
- chr14:38254838 (GRCh38)
- Gene constraint
- LOEUF 1.883 · pLI 0.30 (gnomAD)
- Structure
- AlphaFold pLDDT 69.00
Similar variants
- CLEC14A p.Ala140Ser Uncertain significance ★ ⚠ same type
- CLEC14A p.Ala155Ser Uncertain significance ★ ⚠ same type
- CLEC14A p.Ala186Val Uncertain significance ★ ⚠ same type
- CLEC14A p.Ala228Gly Uncertain significance ★ ⚠ same type
- CLEC14A p.Ala233Val Uncertain significance ★ ⚠ same type
- CLEC14A p.Ala257Ser Uncertain significance ★ ⚠ same type
- CLEC14A p.Ala308Pro Uncertain significance ★ ⚠ same type
- CLEC14A p.Ala36Ser 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/clec14a-p-ser395 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown