FUCA2 p.Glu81=
c.243A>G · rs114388392 · VCV722340
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.192%, eas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 1.8 | GERP 1.8, phastCons 1 |
| Overall | ||
| CADD | 7.894 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.192%
East Asian · 85/44,382 alleles
Filtering AF
0.159%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.146%
Overall
0.0163%
261/1,598,666 alleles · rare
exomes 237/1,446,316 · genomes 24/152,350 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.192% | 522 |
| South Asian | 0.057% | 1,755 |
| Ashkenazi Jewishnot grpmax-eligible | 0.0412% | 2,427 |
| Remaining individualsnot grpmax-eligible | 0.0404% | 2,474 |
| Middle Eastern | 0.0367% | 2,725 |
| Finnishnot grpmax-eligible | 0.011% | 9,124 |
| European (non-Finnish) | 0.00663% | 15,079 |
| Admixed American | 0.00181% | 55,384 |
| African / African-American | 0.00136% | 73,772 |
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
- FUCA2
- Protein
- p.Glu81=
- Coding
- c.243A>G
- MANE Select
- NM_032020
- dbSNP
- rs114388392
- Type
- single nucleotide variant
- Location
- chr6:143507406 (GRCh38)
- Gene constraint
- LOEUF 1.015 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 93.89
Similar variants
- FUCA2 p.Phe184Leu Uncertain significance ★★ ⚠ same type
- FUCA2 p.Ala168Asp Uncertain significance ★ ⚠ same type
- FUCA2 p.Ala28Val Uncertain significance ★ ⚠ same type
- FUCA2 p.Ala43Val Uncertain significance ★ ⚠ same type
- FUCA2 p.Ala462Gly Uncertain significance ★ ⚠ same type
- FUCA2 p.Arg176Cys Uncertain significance ★ ⚠ same type
- FUCA2 p.Arg202Trp Uncertain significance ★ ⚠ same type
- FUCA2 p.Arg254Gln 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/fuca2-p-glu81 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown