RALA p.Arg161Ter
c.481C>T · rs1792931060 · VCV1707851
Uncertain significance
Multiple submitters
Classification
Uncertain significance
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
Consequence
nonsense (stop-gain)
predicted LoF
gnomAD v4.1
Absent
absent from gnomAD v4.1
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | nonsense (stop-gain) | predicted loss-of-function in a LoF-intolerant gene |
|---|---|---|
| NMD | escapes | premature termination codon within the last 50 nt of the penultimate exon (4 of 5, 17 nt from its 3' end) — the truncated protein is likely expressed. PVS1 input, not an applied code |
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 3.2 | GERP 2.2, phastCons 1 |
| Overall | ||
| CADD | 40.0 | PHRED · no single calibrated threshold — expert panels disagree |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
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
- RALA
- Protein
- p.Arg161Ter
- Coding
- c.481C>T
- MANE Select
- NM_005402
- dbSNP
- rs1792931060
- Type
- single nucleotide variant
- Location
- chr7:39696842 (GRCh38)
- Gene constraint
- LOEUF 0.54 · pLI 0.95 (gnomAD)
- Structure
- AlphaFold pLDDT 89.54 · 17 PDB
Similar variants
- RALA p.Thr156Ile Likely pathogenic ★★ same type
- RALA p.Val25Met Pathogenic/Likely pathogenic ★★ same type
- RALA p.Ala196Thr Uncertain significance ★★ ⚠ same type
- RALA p.Arg176Ter Uncertain significance ★★ same type
- RALA p.Asp37Asn Uncertain significance ★★ ⚠ same type
- RALA p.Phe101Ser Uncertain significance ★★ ⚠ same type
- RALA c.114+10A>T Benign/Likely benign ★★ same type
- RALA c.324-14T>G Likely benign ★★ 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/rala-p-arg161ter (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown