ROR1 p.Leu34=
c.102G>A · rs137926239 · VCV2713771
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.153%, afr)
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 2.9 | GERP 0.015, phastCons 1 |
| Overall | ||
| CADD | 4.059 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.153%
African / African-American · 115/74,954 alleles
Filtering AF
0.131%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.122%
Overall
0.00787%
127/1,612,922 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.153% | 652 |
| Remaining individualsnot grpmax-eligible | 0.0128% | 7,809 |
| Admixed American | 0.00333% | 30,008 |
| European (non-Finnish) | 0.00017% | 589,511 |
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
- ROR1
- Protein
- p.Leu34=
- Coding
- c.102G>A
- MANE Select
- NM_005012
- dbSNP
- rs137926239
- Type
- single nucleotide variant
- Location
- chr1:64009315 (GRCh38)
- Gene constraint
- LOEUF 0.326 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 69.17 · 5 PDB
Similar variants
- ROR1 p.Ala596Ser Uncertain significance ★★ ⚠ same type
- ROR1 p.Ala833Ser Uncertain significance ★★ ⚠ same type
- ROR1 p.Ala923Gly Uncertain significance ★★ ⚠ same type
- ROR1 p.Ala923Thr Uncertain significance ★★ ⚠ same type
- ROR1 p.Ala935Val Uncertain significance ★★ ⚠ same type
- ROR1 p.Arg25His Uncertain significance ★★ ⚠ same type
- ROR1 p.Arg429Gln Uncertain significance ★★ same type
- ROR1 p.Arg474Cys 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/ror1-p-leu34 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown