CLUH p.Thr201=
c.603C>T · rs144707484 · VCV777086
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.874%, 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 -9.2 | GERP -4.3 |
| Overall | ||
| CADD | 0.097 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.874%
African / African-American · 656/75,050 alleles
Filtering AF
0.819%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.797%
Overall
0.0484%
781/1,613,858 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.874% | 114 |
| Middle Eastern | 0.0991% | 1,009 |
| Remaining individualsnot grpmax-eligible | 0.0768% | 1,302 |
| Admixed American | 0.07% | 1,429 |
| South Asian | 0.00659% | 15,181 |
| East Asian | 0.00446% | 22,441 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00338% | 29,604 |
| European (non-Finnish) | 0.0017% | 58,996 |
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
- CLUH
- Protein
- p.Thr201=
- Coding
- c.603C>T
- MANE Select
- NM_001366661
- dbSNP
- rs144707484
- Type
- single nucleotide variant
- Location
- chr17:2701930 (GRCh38)
- Gene constraint
- LOEUF 0.799 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 83.11
Similar variants
- CLUH p.Ala671Val Benign ★★ same type
- CLUH p.Ala700= Likely benign ★★ same type
- CLUH p.Glu1228= Likely benign ★★ same type
- CLUH c.1025+1G>A Uncertain significance ★ same type
- CLUH p.Ala1076Thr Uncertain significance ★ ⚠ same type
- CLUH p.Ala1257Ser Uncertain significance ★ ⚠ same type
- CLUH p.Ala1320Gly Uncertain significance ★ ⚠ same type
- CLUH p.Ala1320Val 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/cluh-p-thr201 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown