FGF23 p.Arg231=
c.693A>G · rs760588246 · VCV1528995
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.022%, sas)
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 -1.4 | GERP -2.3 |
| Overall | ||
| CADD | 3.178 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.022%
South Asian · 20/91,088 alleles
Filtering AF
0.0145%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0121%
Overall
0.00155%
25/1,613,664 alleles · ultra-rare
exomes 23/1,461,542 · genomes 2/152,122 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.022% | 4,554 |
| East Asian | 0.00223% | 44,876 |
| European (non-Finnish) | 0.000339% | 295,002 |
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
- FGF23
- Protein
- p.Arg231=
- Coding
- c.693A>G
- MANE Select
- NM_020638
- dbSNP
- rs760588246
- Type
- single nucleotide variant
- Location
- chr12:4370406 (GRCh38)
- Gene constraint
- LOEUF 1.608 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 77.94 · 6 PDB
Similar variants
- FGF23 p.Arg231Gln Uncertain significance ★ ⚠ same residue
- FGF23 p.Arg231Ter Uncertain significance ★ same residue
- FGF23 p.Arg179Gln Pathogenic ★★ ⚠ same type
- FGF23 p.Arg179Trp Pathogenic/Likely pathogenic ★★ same type
- FGF23 p.Gln54His Likely pathogenic ★★ ⚠ same type
- FGF23 p.Gly123Trp Pathogenic/Likely pathogenic ★★ same type
- FGF23 p.Ser129Pro Pathogenic/Likely pathogenic ★★ same type
- FGF23 p.Ala202Val 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/fgf23-p-arg231 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown