F2RL3 p.Ala370=
c.1110G>A · rs145145785 · VCV785617
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
low-frequency (popmax 1.56%, eas)
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 -0.18 | GERP -1.8, phastCons 0.002 |
| Overall | ||
| CADD | 7.447 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.56%
East Asian · 691/44,402 alleles
Filtering AF
1.46%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.42%
Overall
0.0595%
951/1,598,782 alleles · low-frequency
exomes 813/1,446,414 · genomes 138/152,368 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 1.56% | 64 |
| Remaining individualsnot grpmax-eligible | 0.242% | 414 |
| African / African-American | 0.0641% | 1,561 |
| South Asian | 0.037% | 2,703 |
| Middle Eastern | 0.0332% | 3,010 |
| Admixed American | 0.0226% | 4,417 |
| European (non-Finnish) | 0.00119% | 83,856 |
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
- F2RL3
- Protein
- p.Ala370=
- Coding
- c.1110G>A
- MANE Select
- NM_003950
- dbSNP
- rs145145785
- Type
- single nucleotide variant
- Location
- chr19:16890573 (GRCh38)
- Gene constraint
- LOEUF 1.746 · pLI 0.06 (gnomAD)
- Structure
- AlphaFold pLDDT 80.67 · 3 PDB
- Residue 370
- the 'disordered' region
Similar variants
- F2RL3 p.Ala370Glu Uncertain significance ★ ⚠ same residue
- F2RL3 p.Ala120Thr Benign ★★ same type
- F2RL3 p.Leu257= Benign ★★ same type
- F2RL3 p.Tyr322= Benign ★★ same type
- F2RL3 p.Ala128Val Uncertain significance ★ ⚠ same type
- F2RL3 p.Ala186Gly Uncertain significance ★ ⚠ same type
- F2RL3 p.Ala199Ser Uncertain significance ★ ⚠ same type
- F2RL3 p.Ala200Val 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/f2rl3-p-ala370 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown