RICTOR p.Ile811=
c.2433T>A · rs41271103 · VCV782097
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.19%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 7 | GERP 0.46, phastCons 1 |
| Overall | ||
| CADD | 9.773 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.19%
European (non-Finnish) · 13,677/1,151,442 alleles
Filtering AF
1.17%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.16%
Overall
1%
15,741/1,574,204 alleles · low-frequency
exomes 14,616/1,421,920 · genomes 1,125/152,284 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 1.19% | 84 |
| Remaining individualsnot grpmax-eligible | 0.904% | 111 |
| Finnishnot grpmax-eligible | 0.822% | 122 |
| Middle Eastern | 0.807% | 124 |
| Admixed American | 0.548% | 182 |
| South Asian | 0.507% | 197 |
| Ashkenazi Jewishnot grpmax-eligible | 0.205% | 487 |
| African / African-American | 0.166% | 604 |
| Amishnot grpmax-eligible | 0.11% | 912 |
| East Asian | 0.00681% | 14,693 |
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
- RICTOR
- Protein
- p.Ile811=
- Coding
- c.2433T>A
- MANE Select
- NM_152756
- dbSNP
- rs41271103
- Type
- single nucleotide variant
- Location
- chr5:38957718 (GRCh38)
- Gene constraint
- LOEUF 0.305 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 66.57 · 16 PDB
Similar variants
- RICTOR p.Asn749= Benign ★★ same type
- RICTOR p.His442Arg Likely pathogenic ★ ⚠ same type
- RICTOR p.Ala1350Thr Uncertain significance ★ ⚠ same type
- RICTOR p.Ala146Thr Uncertain significance ★ ⚠ same type
- RICTOR p.Ala246Val Uncertain significance ★ ⚠ same type
- RICTOR p.Ala472Thr Uncertain significance ★ ⚠ same type
- RICTOR p.Ala91Thr Uncertain significance ★ ⚠ same type
- RICTOR p.Ala992Val 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/rictor-p-ile811 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown