INSRR p.Phe293=
c.879C>T · rs55881234 · VCV1694532
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.222%, nfe)
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 -4.9 | GERP -4.3 |
| Overall | ||
| CADD | 0.404 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.222%
European (non-Finnish) · 2,602/1,174,066 alleles
Filtering AF
0.214%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.212%
Overall
0.184%
2,949/1,606,512 alleles · rare
exomes 2,740/1,454,168 · genomes 209/152,344 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.222% | 451 |
| Admixed American | 0.209% | 479 |
| Remaining individualsnot grpmax-eligible | 0.201% | 497 |
| Ashkenazi Jewishnot grpmax-eligible | 0.193% | 517 |
| Middle Eastern | 0.116% | 863 |
| African / African-American | 0.0334% | 2,997 |
| Finnishnot grpmax-eligible | 0.00941% | 10,627 |
| South Asian | 0.0022% | 45,414 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- INSRR
- Protein
- p.Phe293=
- Coding
- c.879C>T
- MANE Select
- NM_014215
- dbSNP
- rs55881234
- Type
- single nucleotide variant
- Location
- chr1:156851950 (GRCh38)
- Gene constraint
- LOEUF 1.013 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 78.47 · 4 PDB
Similar variants
- INSRR p.Arg136Cys Uncertain significance ★★ ⚠ same type
- INSRR p.Ile1131Asn Uncertain significance ★★ ⚠ same type
- NTRK1 p.Ala40Glu Uncertain significance ★★ ⚠ same type
- INSRR c.1811-5C>T Benign ★★ same type
- INSRR p.Arg279Cys Likely benign ★★ ⚠ same type
- INSRR p.Arg554Cys Likely benign ★★ ⚠ same type
- INSRR p.Cys246Arg Likely benign ★★ same type
- INSRR p.Gln763= Benign ★★ 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/insrr-p-phe293 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown