CAT p.Ile242=
c.726C>A · rs17886350 · VCV719479
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.3%, afr)
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 0.98, phastCons 1 |
| Overall | ||
| CADD | 14.97 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.3%
African / African-American · 225/75,014 alleles
Filtering AF
0.268%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.255%
Overall
0.016%
259/1,613,994 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.3% | 333 |
| Middle Eastern | 0.033% | 3,030 |
| Remaining individualsnot grpmax-eligible | 0.0176% | 5,681 |
| Admixed American | 0.015% | 6,667 |
| European (non-Finnish) | 0.00102% | 98,332 |
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
- CAT
- Protein
- p.Ile242=
- Coding
- c.726C>A
- MANE Select
- NM_001752
- dbSNP
- rs17886350
- Type
- single nucleotide variant
- Location
- chr11:34456025 (GRCh38)
- Gene constraint
- LOEUF 0.9 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 95.97 · 17 PDB
Similar variants
- CAT p.Ile242Val Uncertain significance ★ ⚠ same residue
- CAT c.239-5G>A Benign/Likely benign ★★ same type
- CAT p.Arg189Cys Benign/Likely benign ★★ ⚠ same type
- CAT p.Asn439= Likely benign ★★ same type
- CAT p.Gly390Asp Benign ★★ same type
- CAT p.His209Tyr Likely benign ★★ same type
- CAT p.His492= Benign/Likely benign ★★ same type
- CAT p.Ile109= Benign/Likely 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/cat-p-ile242 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown