ROR1 p.Pro808=
c.2424G>A · rs201485634 · VCV752807
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0165%, mid)
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 | GERP -6.8 |
| Overall | ||
| CADD | 6.375 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0165%
Middle Eastern · 1/6,062 alleles
Filtering AF
0.00596%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00549%
Overall
0.00626%
101/1,614,118 alleles · ultra-rare
exomes 98/1,461,892 · genomes 3/152,226 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.0165% | 6,062 |
| South Asian | 0.00769% | 13,011 |
| European (non-Finnish) | 0.0072% | 13,883 |
| Remaining individualsnot grpmax-eligible | 0.0064% | 15,626 |
| East Asian | 0.00446% | 22,432 |
| Admixed American | 0.00333% | 30,009 |
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.Pro808=
- Coding
- c.2424G>A
- MANE Select
- NM_005012
- dbSNP
- rs201485634
- Type
- single nucleotide variant
- Location
- chr1:64178465 (GRCh38)
- Gene constraint
- LOEUF 0.326 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 69.17 · 5 PDB
Similar variants
- ROR1 p.Pro808Leu Uncertain significance ★★ ⚠ same residue
- 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
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-pro808 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown