RTEL1 p.Pro1237Thr
c.3709C>A · VCV4157617
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no allele count reported in gnomAD v4.1 (AN 1,612,240)
Conditions
1
Inborn genetic diseases
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.231 | benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 1.3 | GERP 0.9, phastCons 0.019 |
| Regional constraint | o/e 1.45 | unconstrained · MANE · 5,558 bp · p 3.7e-34 · regional, not allelic |
| Overall | ||
| CADD | 12.42 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
No allele count reported in gnomAD v4.1 (AN 1,612,240). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- RTEL1
- Protein
- p.Pro1237Thr
- Coding
- c.3709C>A
- MANE Select
- NM_001283009
- Type
- single nucleotide variant
- Location
- chr20:63695537 (GRCh38)
- Gene constraint
- LOEUF 0.661 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 72.64 · 3 PDB
Similar variants
- RTEL1 p.Pro1237Ser Uncertain significance ★★ same residue
- RTEL1 p.Pro1237= Likely benign ★★ same residue
- RTEL1 p.Pro1237His Uncertain significance ★ same residue
- RTEL1 p.Pro1237Leu Uncertain significance ★ same residue
- RTEL1 p.Pro1237Ala Likely benign ★ same residue
- RTEL1 p.Ala1012Ser Uncertain significance ★★ ⚠ same condition
- RTEL1 p.Ala1052Thr Uncertain significance ★★ ⚠ same condition
- RTEL1 p.Ala1074Val Uncertain significance ★★ ⚠ 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/rtel1-p-pro1237thr (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown