FOLH1 p.Arg511=
c.1533G>A · VCV4258934
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.000509%, nfe)
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 0.031 | phastCons 0.87 |
| Overall | ||
| CADD | 13.14 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.000509%
European (non-Finnish) · 6/1,178,438 alleles
Filtering AF
0.000183%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00012%
Overall
0.000372%
6/1,611,086 alleles · very rare
exomes 4/1,459,048 · genomes 2/152,038 · joint denominator
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
- FOLH1
- Protein
- p.Arg511=
- Coding
- c.1533G>A
- MANE Select
- NM_004476
- Type
- single nucleotide variant
- Location
- chr11:49156807 (GRCh38)
- Gene constraint
- LOEUF 0.801 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 93.89 · 89 PDB
- Residue 511
- the 'naaladase' region
Similar variants
- FOLH1 p.Asp244= Likely benign ★★ same type
- FOLH1 p.Gly172= Benign ★★ same type
- FOLH1 p.Pro160Ala Benign ★★ same type
- FOLH1 p.Ser155Leu Benign ★★ same type
- FOLH1 p.Tyr75His Benign ★★ same type
- FOLH1 p.Ala313Val Uncertain significance ★ ⚠ same type
- FOLH1 p.Ala601Ser Uncertain significance ★ ⚠ same type
- FOLH1 p.Arg190Gln 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/folh1-p-arg511 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown