INTS8 p.Val173=
c.519T>A · VCV4039083
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. | ||
| REVEL | 0.009 | strongly benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 0.86 | GERP -3.7, phastCons 1 |
| Overall | ||
| CADD | 5.475 | 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
- INTS8
- Protein
- p.Val173=
- Coding
- c.519T>A
- MANE Select
- NM_017864
- Type
- single nucleotide variant
- Location
- chr8:94828975 (GRCh38)
- Gene constraint
- LOEUF 0.453 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 84.47 · 10 PDB
- Residue 173
- an α-helix
Similar variants
- INTS8 p.Tyr499Cys Uncertain significance ★★ ⚠ same type
- INTS8 c.1018-11G>A Benign ★★ same type
- INTS8 p.Ala898= Benign ★★ same type
- INTS8 p.Gly437Glu Likely benign ★★ same type
- INTS8 p.His922= Benign ★★ same type
- INTS8 p.Ser710= Benign ★★ same type
- INTS8 p.Ser755Arg Benign/Likely benign ★★ ⚠ same type
- INTS8 p.Arg359Ter Likely pathogenic ★ 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/ints8-p-val173 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown