RECQL4 p.Pro965=
c.2895T>G · rs2537988042 · VCV3002787
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
Baller-Gerold syndrome
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| Splicing | ||
| SpliceAI | Δ0.23 | acceptor loss, 25 bp away · masked 0 · deltas |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -5.1 | GERP -3.9 |
| Overall | ||
| CADD | 0.687 | 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
- RECQL4
- Protein
- p.Pro965=
- Coding
- c.2895T>G
- MANE Select
- NM_004260
- dbSNP
- rs2537988042
- Type
- single nucleotide variant
- Location
- chr8:144512552 (GRCh38)
- Gene constraint
- LOEUF 1.519 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 68.32 · 2 PDB
- Residue 965
- an α-helix; a UniProt-annotated variant site (in rts2)
Similar variants
- RECQL4 p.Pro965Leu Uncertain significance ★★ ⚠ same residue
- RECQL4 p.Pro965Ser Uncertain significance ★★ same residue
- RECQL4 p.Pro965Arg Uncertain significance ★ ⚠ same residue
- RECQL4 p.Pro965His Uncertain significance ★ ⚠ same residue
- RECQL4 p.Pro965fs Pathogenic/Likely pathogenic ★★ same residue
- RECQL4 c.1132-1G>A Likely pathogenic ★★ same condition
- RECQL4 c.1259-1G>A Pathogenic/Likely pathogenic ★★ same condition
- RECQL4 c.1391-1G>A 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/recql4-p-pro965 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown