IDH1 p.Pro149=
c.447T>C · rs1687997193 · VCV2453224
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
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 2.1 | GERP 1.4, phastCons 1 |
| Overall | ||
| CADD | 10.72 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- IDH1
- Protein
- p.Pro149=
- Coding
- c.447T>C
- MANE Select
- NM_005896
- dbSNP
- rs1687997193
- Type
- single nucleotide variant
- Location
- chr2:208245392 (GRCh38)
- Gene constraint
- LOEUF 0.829 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 96.00 · 64 PDB
- Residue 149
- a β-strand
Similar variants
- IDH1 p.Arg132Cys Pathogenic/Likely pathogenic ★★ same type
- IDH1 p.Arg132His Pathogenic/Likely pathogenic ★★ same type
- IDH1 p.Arg317His Uncertain significance ★★ ⚠ same type
- IDH1 p.Asp38Asn Uncertain significance ★★ ⚠ same type
- IDH1 p.Met318Thr Uncertain significance ★★ ⚠ same type
- IDH1 c.122+105G>A Benign ★★ same type
- IDH1 c.123-4C>T Benign ★★ same type
- IDH1 c.415-238A>G Benign ★★ 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/idh1-p-pro149 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown