TTR p.Val52=
c.156G>A · rs2144406775 · VCV1083722
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
2
Cardiovascular phenotype
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 1.5 | GERP -2.5, phastCons 1 |
| Overall | ||
| CADD | 2.977 | 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
- TTR
- Protein
- p.Val52=
- Coding
- c.156G>A
- MANE Select
- NM_000371
- dbSNP
- rs2144406775
- Type
- single nucleotide variant
- Location
- chr18:31592982 (GRCh38)
- Gene constraint
- LOEUF 1.049 · pLI 0.01 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 88.74 · 493 PDB
- Residue 52
- a β-strand
Similar variants
- TTR p.Val52Ala Pathogenic/Likely pathogenic ★★ ⚠ same residue
- TTR p.Ala117Ser Pathogenic/Likely pathogenic ★★ ⚠ same condition
- TTR p.Ala39Asp Pathogenic/Likely pathogenic ★★ ⚠ same condition
- TTR p.Ala56Pro Pathogenic/Likely pathogenic ★★ same condition
- TTR p.Ala65Asp Pathogenic/Likely pathogenic ★★ ⚠ same condition
- TTR p.Ala65Thr Pathogenic/Likely pathogenic ★★ ⚠ same condition
- TTR p.Ala65Val Pathogenic/Likely pathogenic ★★ ⚠ same condition
- TTR p.Arg54Thr Pathogenic/Likely pathogenic ★★ same condition
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/ttr-p-val52 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown