CLMN p.Pro261=
c.783C>G · rs780456472 · VCV3052247
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.231%, mid)
Conditions
1
CLMN-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 2.4 | GERP -1.6, phastCons 1 |
| Overall | ||
| CADD | 8.807 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.231%
Middle Eastern · 14/6,048 alleles
Filtering AF
0.14%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.112%
Overall
0.00629%
101/1,606,088 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.231% | 432 |
| South Asian | 0.041% | 2,438 |
| Admixed American | 0.0103% | 9,746 |
| Ashkenazi Jewishnot grpmax-eligible | 0.0102% | 9,810 |
| Remaining individualsnot grpmax-eligible | 0.00966% | 10,354 |
| East Asian | 0.00455% | 21,964 |
| European (non-Finnish) | 0.00272% | 36,778 |
| African / African-American | 0.00135% | 74,148 |
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
- CLMN
- Protein
- p.Pro261=
- Coding
- c.783C>G
- MANE Select
- NM_024734
- dbSNP
- rs780456472
- Type
- single nucleotide variant
- Location
- chr14:95210705 (GRCh38)
- Gene constraint
- LOEUF 0.755 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 52.84
- Residue 261
- the calponin-homology (ch) 2 domain; the 'actin-binding' region
Disease context
CLMN-related disorder
Similar variants
- CLMN c.608+7C>T Likely benign same condition
- CLMN p.Ala207= Likely benign same condition
- CLMN p.Arg313= Likely benign same condition
- CLMN p.Arg517His Benign same condition
- CLMN p.Glu245= Likely benign same condition
- CLMN p.Glu5= Benign same condition
- CLMN p.Pro850= Likely benign same condition
- CLMN p.Ser154= Likely 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/clmn-p-pro261 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown