CLASP1 p.Arg434=
c.1302G>A · rs368563172 · VCV3034723
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.116%, mid)
Conditions
1
CLASP1-related disorder
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 0.11 | GERP 0.16, phastCons 0.87 |
| Overall | ||
| CADD | 9.719 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.116%
Middle Eastern · 7/6,028 alleles
Filtering AF
0.0544%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0386%
Overall
0.00535%
86/1,607,540 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.116% | 861 |
| Admixed American | 0.0238% | 4,210 |
| Remaining individualsnot grpmax-eligible | 0.0161% | 6,218 |
| South Asian | 0.00889% | 11,244 |
| African / African-American | 0.00402% | 24,891 |
| European (non-Finnish) | 0.00374% | 26,751 |
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
- CLASP1
- Protein
- p.Arg434=
- Coding
- c.1302G>A
- MANE Select
- NM_001395891
- dbSNP
- rs368563172
- Type
- single nucleotide variant
- Location
- chr2:121458852 (GRCh38)
- Gene constraint
- LOEUF 0.237 · pLI 1.00 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 69.44 · 3 PDB
- Residue 434
- an α-helix
Disease context
CLASP1-related disorder
Similar variants
- CLASP1 c.196-567G>A Pathogenic/Likely pathogenic ★★ same condition
- CLASP1 c.196-594G>A Pathogenic/Likely pathogenic ★★ same condition
- CLASP1 c.196-605C>T Pathogenic/Likely pathogenic ★★ same condition
- CLASP1 n.30G>A Likely pathogenic ★★ same condition
- RNU4ATAC n.53C>G Pathogenic/Likely pathogenic ★★ same condition
- RNU4ATAC n.55G>A Pathogenic ★★ same condition
- MAST1 p.Gln1392His Uncertain significance ★★ ⚠ same condition
- CLASP1 c.196-544G>A Benign ★★ same condition
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/clasp1-p-arg434 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown