RAD18 p.Pro70=
c.210G>A · VCV4575217
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0165%, mid)
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 -4.2 | GERP -5.2 |
| Overall | ||
| CADD | 11.59 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0165%
Middle Eastern · 1/6,068 alleles
Filtering AF
0.000766%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000607%
Overall
0.00131%
21/1,608,814 alleles · ultra-rare
exomes 18/1,456,828 · genomes 3/151,986 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.0165% | 6,068 |
| East Asian | 0.00447% | 22,389 |
| Admixed American | 0.00334% | 29,897 |
| African / African-American | 0.00134% | 74,708 |
| European (non-Finnish) | 0.00128% | 78,400 |
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
- RAD18
- Protein
- p.Pro70=
- Coding
- c.210G>A
- MANE Select
- NM_020165
- Type
- single nucleotide variant
- Location
- chr3:8947276 (GRCh38)
- Gene constraint
- LOEUF 1.05 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 67.69 · 8 PDB
- Residue 70
- an α-helix
Similar variants
- RAD18 p.Ala101Gly Uncertain significance ★ ⚠ same type
- RAD18 p.Ala163Val Uncertain significance ★ ⚠ same type
- RAD18 p.Ala365Ser Uncertain significance ★ ⚠ same type
- RAD18 p.Ala481Thr Uncertain significance ★ ⚠ same type
- RAD18 p.Arg123Ser Uncertain significance ★ ⚠ same type
- RAD18 p.Arg131Ser Uncertain significance ★ ⚠ same type
- RAD18 p.Arg131Thr Uncertain significance ★ ⚠ same type
- RAD18 p.Arg173His 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/rad18-p-pro70 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown