RORA p.Pro44=
c.132G>C · rs548732228 · VCV1298626
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.17%, eas)
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 0.8 | GERP 0.55, phastCons 1 |
| Overall | ||
| CADD | 9.566 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.17%
East Asian · 68/39,920 alleles
Filtering AF
0.138%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.126%
Overall
0.0142%
218/1,538,082 alleles · rare
exomes 193/1,389,370 · genomes 25/148,712 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.17% | 587 |
| European (non-Finnish) | 0.0123% | 8,162 |
| Remaining individualsnot grpmax-eligible | 0.0084% | 11,903 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00353% | 28,308 |
| South Asian | 0.00239% | 41,825 |
| Finnishnot grpmax-eligible | 0.00176% | 56,980 |
| African / African-American | 0.0014% | 71,406 |
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.Pro44=
- Coding
- c.132G>C
- MANE Select
- NM_134261
- dbSNP
- rs548732228
- Type
- single nucleotide variant
- Location
- chr15:61229087 (GRCh38)
- Gene constraint
- LOEUF 0.207 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 76.40 · 3 PDB
- Residue 44
- the 'disordered' region
Similar variants
- RORA p.Pro44Ala Uncertain significance ★ ⚠ same residue
- RORA p.Pro44Leu 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
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-pro44 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown