CTBS p.Asn357=
c.1071C>T · rs138861244 · VCV718265
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 2.78%, sas)
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 2.1 | GERP -3.1, phastCons 1 |
| Overall | ||
| CADD | 4.993 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.78%
South Asian · 2,528/91,062 alleles
Filtering AF
2.69%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 2.65%
Overall
0.439%
7,080/1,613,946 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 2.78% | 36 |
| Middle Eastern | 2.06% | 48 |
| Ashkenazi Jewishnot grpmax-eligible | 0.875% | 114 |
| Remaining individualsnot grpmax-eligible | 0.534% | 187 |
| Amishnot grpmax-eligible | 0.329% | 304 |
| European (non-Finnish) | 0.305% | 328 |
| Admixed American | 0.272% | 368 |
| Finnishnot grpmax-eligible | 0.0641% | 1,561 |
| African / African-American | 0.036% | 2,778 |
| East Asian | 0.00223% | 44,870 |
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
- CTBS
- Protein
- p.Asn357=
- Coding
- c.1071C>T
- MANE Select
- NM_004388
- dbSNP
- rs138861244
- Type
- single nucleotide variant
- Location
- chr1:84555086 (GRCh38)
- Gene constraint
- LOEUF 1.084 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 91.87
- Residue 357
- the gh18 domain
Similar variants
- CTBS p.Ala284Thr Uncertain significance ★ ⚠ same type
- CTBS p.Ala32Val Uncertain significance ★ ⚠ same type
- CTBS p.Arg169Ser Uncertain significance ★ ⚠ same type
- CTBS p.Arg189Gly Uncertain significance ★ ⚠ same type
- CTBS p.Arg277Gln Uncertain significance ★ ⚠ same type
- CTBS p.Arg287Cys Uncertain significance ★ ⚠ same type
- CTBS p.Arg349Gln Uncertain significance ★ ⚠ same type
- CTBS p.Arg3Gln Uncertain significance ★ ⚠ 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/ctbs-p-asn357 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown