GDF1 p.Phe291=
c.873C>T · VCV4078764
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00593%, 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 3.6 | GERP -0.33, phastCons 1 |
| Overall | ||
| CADD | 11.26 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00593%
African / African-American · 4/67,418 alleles
Filtering AF
0.00198%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00113%
Overall
0.000276%
4/1,450,420 alleles · very rare
exomes 2/1,301,750 · genomes 2/148,670 · 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
- GDF1
- Protein
- p.Phe291=
- Coding
- c.873C>T
- MANE Select
- NM_001492
- Type
- single nucleotide variant
- Location
- chr19:18868843 (GRCh38)
- Gene constraint
- LOEUF 1.972 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 74.44
- Residue 291
- a UniProt-annotated variant site (in chtd6 and rai)
Similar variants
- CERS1 p.Leu291= Likely benign ★ same residue
- CERS1 p.His233Arg Uncertain significance ★★ ⚠ same type
- CERS1 p.His236Gln Uncertain significance ★★ same type
- CERS1 p.Lys98Arg Uncertain significance ★★ ⚠ same type
- CERS1 p.Pro140Leu Uncertain significance ★★ ⚠ same type
- CERS1 p.Pro260Leu Uncertain significance ★★ ⚠ same type
- CERS1 p.Pro84Thr Uncertain significance ★★ same type
- CERS1 p.Ser330Ile 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/gdf1-p-phe291 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown