RSPH4A p.Pro87=
c.261G>A · rs1060504544 · VCV415507
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
primary ciliary dyskinesia
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 -1.7 | GERP -3.4 |
| Overall | ||
| CADD | 3.383 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- RSPH4A
- Protein
- p.Pro87=
- Coding
- c.261G>A
- MANE Select
- NM_001010892
- dbSNP
- rs1060504544
- Type
- single nucleotide variant
- Location
- chr6:116616884 (GRCh38)
- Gene constraint
- LOEUF 0.816 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 67.85 · 1 PDB
- Residue 87
- the 'disordered' region; a UniProt-annotated variant site (in cild11)
Disease context
primary ciliary dyskinesia — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Primary ciliary dyskinesia (Orphanet):
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked recessive
- Onset
- Neonatal
- Prevalence
- 1-5 / 10 000 (Pakistan)
Similar variants
- RSPH4A p.Pro87Ser Uncertain significance ★★ ⚠ same residue
- RSPH4A p.Pro87Leu Uncertain significance ★ ⚠ same residue
- RSPH4A p.Arg465Ter Pathogenic ★★ same condition
- RSPH4A p.Arg485Ter Pathogenic ★★ same condition
- RSPH4A p.Arg490Ter Pathogenic/Likely pathogenic ★★ same condition
- RSPH4A p.Arg520Ter Pathogenic ★★ same condition
- RSPH4A p.Gln144Ter Pathogenic ★★ same condition
- RSPH4A p.Gln154Ter Pathogenic ★★ 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/rsph4a-p-pro87 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown