RAB34 p.Arg71=
c.213G>A · rs368248729 · VCV3150680
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00602%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.264 | benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 1.8 | GERP 0.9, phastCons 1 |
| Overall | ||
| CADD | 15.89 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00602%
European (non-Finnish) · 71/1,179,764 alleles
Filtering AF
0.00486%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00447%
Overall
0.00452%
73/1,613,624 alleles · very rare
exomes 72/1,461,494 · genomes 1/152,130 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.00602% | 16,616 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,474 |
| African / African-American | 0.00134% | 74,866 |
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
- RAB34
- Protein
- p.Arg71=
- Coding
- c.213G>A
- MANE Select
- NM_031934
- dbSNP
- rs368248729
- Type
- single nucleotide variant
- Location
- chr17:28715901 (GRCh38)
- Gene constraint
- LOEUF 1.152 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 46.94
- Residue 71
- the '13 x 9 aa approximate tandem-repeats of p-r-v-i-v-g-(s/t)-p-r' region
Similar variants
- RAB34 p.Arg231Ter Likely pathogenic ★ same type
- RAB34 p.Ile85Thr Likely pathogenic ★ same type
- RAB34 p.Ala213Gly Uncertain significance ★ ⚠ same type
- RAB34 p.Ala213Ser Uncertain significance ★ ⚠ same type
- RAB34 p.Arg123Lys Uncertain significance ★ ⚠ same type
- RAB34 p.Arg211Cys Uncertain significance ★ ⚠ same type
- RAB34 p.Arg232Cys Uncertain significance ★ ⚠ same type
- RAB34 p.Arg33Gly 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/rab34-p-arg71 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown