CLUAP1 p.Thr355=
c.1065G>A · rs34157154 · VCV1166405
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.38%, 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 -0.98 | GERP -5.4 |
| Overall | ||
| CADD | 2.489 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.38%
African / African-American · 1,032/74,996 alleles
Filtering AF
1.31%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.28%
Overall
0.0835%
1,348/1,614,070 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1.38% | 73 |
| Admixed American | 0.172% | 583 |
| Remaining individualsnot grpmax-eligible | 0.133% | 753 |
| Middle Eastern | 0.099% | 1,010 |
| European (non-Finnish) | 0.00983% | 10,172 |
| South Asian | 0.00878% | 11,385 |
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
- CLUAP1
- Protein
- p.Thr355=
- Coding
- c.1065G>A
- MANE Select
- NM_015041
- dbSNP
- rs34157154
- Type
- single nucleotide variant
- Location
- chr16:3532814 (GRCh38)
- Gene constraint
- LOEUF 1.23 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 78.02
- Residue 355
- the 'disordered' region
Similar variants
- CLUAP1 p.Thr355Met Uncertain significance ★★ ⚠ same residue
- IFT38 p.Thr355Lys Uncertain significance ★ ⚠ same residue
- CLUAP1 p.Ala152Glu Uncertain significance ★★ ⚠ same type
- CLUAP1 p.Ala188Gly Uncertain significance ★★ ⚠ same type
- CLUAP1 p.Ala339Thr Uncertain significance ★★ ⚠ same type
- CLUAP1 p.Arg20Gln Uncertain significance ★★ ⚠ same type
- CLUAP1 p.Arg228Gln Uncertain significance ★★ ⚠ same type
- CLUAP1 p.Arg304His 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/cluap1-p-thr355 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown