ROR1 p.Ser748=
c.2244C>T · rs1034419001 · VCV1570036
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0183%, amr)
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 2.6 | GERP 3.1, phastCons 1 |
| Overall | ||
| CADD | 8.493 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0183%
Admixed American · 11/60,010 alleles
Filtering AF
0.0102%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00785%
Overall
0.000929%
15/1,614,038 alleles · ultra-rare
exomes 5/1,461,874 · genomes 10/152,164 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.0183% | 5,455 |
| Remaining individualsnot grpmax-eligible | 0.0032% | 31,244 |
| African / African-American | 0.00134% | 74,902 |
| European (non-Finnish) | 8.47e-05% | 1,180,032 |
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.Ser748=
- Coding
- c.2244C>T
- MANE Select
- NM_005012
- dbSNP
- rs1034419001
- Type
- single nucleotide variant
- Location
- chr1:64178285 (GRCh38)
- Gene constraint
- LOEUF 0.326 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 69.17 · 5 PDB
- Residue 748
- an α-helix
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-ser748 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown