RORA p.Pro30=
c.90G>A · rs201242304 · VCV1298627
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 4 submitters
gnomAD v4.1
Rare
rare (popmax 0.248%, 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 1.8 | GERP 1.7, phastCons 1 |
| Overall | ||
| CADD | 13.83 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.248%
Admixed American · 126/50,732 alleles
Filtering AF
0.24%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.237%
Overall
0.205%
3,169/1,542,514 alleles · rare
exomes 2,923/1,393,420 · genomes 246/149,094 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.248% | 403 |
| European (non-Finnish) | 0.248% | 404 |
| Finnishnot grpmax-eligible | 0.136% | 734 |
| Remaining individualsnot grpmax-eligible | 0.122% | 817 |
| African / African-American | 0.0472% | 2,118 |
| Middle Eastern | 0.046% | 2,176 |
| Ashkenazi Jewishnot grpmax-eligible | 0.0246% | 4,065 |
| South Asian | 0.0155% | 6,455 |
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
- RORA
- Protein
- p.Pro30=
- Coding
- c.90G>A
- MANE Select
- NM_134261
- dbSNP
- rs201242304
- Type
- single nucleotide variant
- Location
- chr15:61229129 (GRCh38)
- Gene constraint
- LOEUF 0.207 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 76.40 · 3 PDB
- Residue 30
- the 'disordered' region
Similar variants
- RORA p.Pro30Gln Uncertain significance ★ ⚠ same residue
- RORA p.Arg462Ter Pathogenic/Likely pathogenic ★★ same type
- RORA p.Arg500Ter Pathogenic/Likely pathogenic ★★ same type
- RORA p.Ala11Val Uncertain significance ★★ ⚠ same type
- RORA p.Ala358Thr Uncertain significance ★★ same type
- RORA p.Ala7Ser Uncertain significance ★★ ⚠ same type
- RORA p.Arg170His Uncertain significance ★★ ⚠ same type
- RORA p.Arg462Gln 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/rora-p-pro30 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown