RORA p.Ala338=
c.1014C>A · rs1047109483 · VCV3047218
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
RORA-related disorder
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 12 | GERP 7.2, phastCons 1 |
| Overall | ||
| CADD | 13.03 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- RORA
- Protein
- p.Ala338=
- Coding
- c.1014C>A
- MANE Select
- NM_134261
- dbSNP
- rs1047109483
- Type
- single nucleotide variant
- Location
- chr15:60503596 (GRCh38)
- Gene constraint
- LOEUF 0.207 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 76.40 · 3 PDB
- Residue 338
- the nr lbd domain; an α-helix
Disease context
RORA-related disorder
Similar variants
- RORA p.Ala338Asp Likely pathogenic ★ same residue
- RORA p.Arg500Ter Pathogenic/Likely pathogenic ★★ same condition
- RORA p.Arg140Ter Likely pathogenic ★ same condition
- RORA c.1076-6G>A Uncertain significance ★ same condition
- RORA c.197-26463C>G Uncertain significance same condition
- RORA p.His275Tyr Uncertain significance ⚠ same condition
- RORA p.Leu156= Likely benign same condition
- RORA p.Arg340fs Pathogenic/Likely pathogenic same condition
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-ala338 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown