CLASP1 p.Pro712=
c.2136G>A · rs149355721 · VCV717192
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.594%, mid)
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 -0.23 | GERP -4, phastCons 0.1 |
| Overall | ||
| CADD | 9.138 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.594%
Middle Eastern · 36/6,062 alleles
Filtering AF
0.441%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.388%
Overall
0.288%
4,643/1,613,486 alleles · rare
exomes 4,246/1,461,200 · genomes 397/152,286 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.594% | 168 |
| European (non-Finnish) | 0.347% | 288 |
| Remaining individualsnot grpmax-eligible | 0.234% | 428 |
| Finnishnot grpmax-eligible | 0.178% | 562 |
| Admixed American | 0.165% | 604 |
| African / African-American | 0.103% | 974 |
| South Asian | 0.0736% | 1,358 |
| Ashkenazi Jewishnot grpmax-eligible | 0.0372% | 2,690 |
| East Asian | 0.00223% | 44,830 |
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.Pro712=
- Coding
- c.2136G>A
- MANE Select
- NM_001395891
- dbSNP
- rs149355721
- Type
- single nucleotide variant
- Location
- chr2:121425215 (GRCh38)
- Gene constraint
- LOEUF 0.237 · pLI 1.00 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 69.44 · 3 PDB
- Residue 712
- the 'interaction with microtubules, mapre1 and mapre3' region; the 'disordered' region
Similar variants
- CLASP1 c.196-567G>A Pathogenic/Likely pathogenic ★★ same type
- CLASP1 c.196-570C>T Pathogenic/Likely pathogenic ★★ same type
- CLASP1 c.196-594G>A Pathogenic/Likely pathogenic ★★ same type
- CLASP1 c.196-605C>T Pathogenic/Likely pathogenic ★★ same type
- CLASP1 c.196-670T>G Pathogenic/Likely pathogenic ★★ same type
- CLASP1 n.30G>A Likely pathogenic ★★ same type
- MAST1 p.Gly517Ser Pathogenic ★★ same type
- MAST1 p.Pro1177Leu Likely pathogenic ★★ ⚠ 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/clasp1-p-pro712 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown