RECQL p.Leu151=
c.453A>G · rs367652565 · VCV1124044
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.033%, mid)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 2.8 | GERP 0.71, phastCons 1 |
| Overall | ||
| CADD | 10.38 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.033%
Middle Eastern · 2/6,052 alleles
Filtering AF
0.0167%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0139%
Overall
0.00187%
30/1,606,618 alleles · ultra-rare
exomes 20/1,455,170 · genomes 10/151,448 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.033% | 3,026 |
| African / African-American | 0.0256% | 3,909 |
| Remaining individualsnot grpmax-eligible | 0.00804% | 12,437 |
| South Asian | 0.0034% | 29,450 |
| Admixed American | 0.0017% | 58,922 |
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
- RECQL
- Protein
- p.Leu151=
- Coding
- c.453A>G
- MANE Select
- NM_002907
- dbSNP
- rs367652565
- Type
- single nucleotide variant
- Location
- chr12:21486527 (GRCh38)
- Gene constraint
- LOEUF 1.235 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 86.55 · 7 PDB
- Residue 151
- the helicase atp-binding domain; an α-helix
Similar variants
- RECQL c.1098+1G>A Uncertain significance ★★ same type
- RECQL c.1216+3A>G Uncertain significance ★★ same type
- RECQL c.1217-3C>T Uncertain significance ★★ same type
- RECQL c.1355+1G>A Uncertain significance ★★ same type
- RECQL c.1356-12A>G Uncertain significance ★★ same type
- RECQL c.1667+5G>C Uncertain significance ★★ same type
- RECQL c.394+1G>A Uncertain significance ★★ same type
- RECQL c.867+3A>T Uncertain significance ★★ 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/recql-p-leu151 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown