INS p.Val63=
c.189G>C · VCV4804636
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 | <0.2 | all four deltas below 0.2 · C>T here scores Δ0.41 · evaluated, not missing |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -4 | GERP -0.45 |
| Overall | ||
| CADD | 2.876 | 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
- INS
- Protein
- p.Val63=
- Coding
- c.189G>C
- MANE Select
- NM_000207
- Type
- single nucleotide variant
- Location
- chr11:2159996 (GRCh38)
- Gene constraint
- LOEUF 1.195 · pLI 0.02 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 53.19 · 386 PDB
- Residue 63
- a turn
Similar variants
- INS p.Val63Ala Uncertain significance ★ ⚠ same residue
- INS c.-152C>A Pathogenic/Likely pathogenic ★★ same type
- INS c.-152C>G Pathogenic ★★ same type
- INS p.Ala24Val Likely pathogenic ★★ ⚠ same type
- INS p.Arg89Cys Pathogenic/Likely pathogenic ★★ same type
- INS p.Arg89His Pathogenic/Likely pathogenic ★★ same type
- INS p.Gly32Ser Pathogenic/Likely pathogenic ★★ ⚠ same type
- INS p.Met1Val Pathogenic/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/ins-p-val63 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown