TGFB1 p.Val164=
c.492G>A · rs2123108597 · VCV1562787
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 -1.9 | GERP -3.6 |
| Overall | ||
| CADD | 5.984 | 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
- TGFB1
- Protein
- p.Val164=
- Coding
- c.492G>A
- MANE Select
- NM_000660
- dbSNP
- rs2123108597
- Type
- single nucleotide variant
- Location
- chr19:41348319 (GRCh38)
- Gene constraint
- LOEUF 0.682 · pLI 0.03 (gnomAD)
- Structure
- AlphaFold pLDDT 80.11 · 22 PDB
- Residue 164
- the 'arm domain' region; a β-strand
Similar variants
- TGFB1 p.Arg218Cys Pathogenic ★★ same type
- TGFB1 p.Arg218His Pathogenic/Likely pathogenic ★★ ⚠ same type
- TGFB1 p.Tyr171Cys Likely pathogenic ★★ same type
- TGFB1 c.1014+5G>A Uncertain significance ★★ same type
- TGFB1 p.Arg152Trp Uncertain significance ★★ ⚠ same type
- TGFB1 p.Arg185Trp Uncertain significance ★★ ⚠ same type
- TGFB1 p.Arg277Cys Uncertain significance ★★ ⚠ same type
- TGFB1 p.Arg385Gly 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/tgfb1-p-val164 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown