PRNP p.Gln160=
c.480A>G · rs1922447173 · VCV3013268
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
Huntington disease-like 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 |
|---|---|---|
| Pangolin | Δ0.32 | gain · loss 0.00 · not in the SpliceAI release · independent |
| Constraint at this position | ||
| Conservation | phyloP 2.6 | GERP 0.34, phastCons 1 |
| Overall | ||
| CADD | 7.021 | 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
- PRNP
- Protein
- p.Gln160=
- Coding
- c.480A>G
- MANE Select
- NM_000311
- dbSNP
- rs1922447173
- Type
- single nucleotide variant
- Location
- chr20:4699700 (GRCh38)
- Gene constraint
- LOEUF 1.036 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 68.18 · 70 PDB
- Residue 160
- a β-strand; the 'interaction with grb2, eri3 and syn1' region
Disease context
Huntington disease-like 1 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Huntington disease-like 1 (Orphanet):
- Inheritance
- Autosomal dominant
- Onset
- Adult
Similar variants
- PRNP p.Gln160Ter Pathogenic ★ same residue
- PRNP p.Arg148His Likely pathogenic ★★ ⚠ same condition
- PRNP p.Arg208His Pathogenic/Likely pathogenic ★★ ⚠ same condition
- PRNP p.Asp178Asn Pathogenic/Likely pathogenic ★★ ⚠ same condition
- PRNP p.Gln217Arg Likely pathogenic ★★ ⚠ same condition
- PRNP p.Glu200Lys Pathogenic ★★ ⚠ same condition
- PRNP p.Gly131Val Pathogenic/Likely pathogenic ★★ same condition
- PRNP p.Phe198Ser 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/prnp-p-gln160 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown