STK36 p.Pro892=
c.2676C>T · rs150037304 · VCV746675
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
rare (popmax 0.42%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.038 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -10 | GERP -4.8 |
| Overall | ||
| CADD | 0.445 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.42%
African / African-American · 315/75,024 alleles
Filtering AF
0.382%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.367%
Overall
0.0252%
407/1,614,114 alleles · rare
exomes 224/1,461,884 · genomes 183/152,230 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.42% | 238 |
| Middle Eastern | 0.033% | 3,031 |
| East Asian | 0.0223% | 4,488 |
| Remaining individualsnot grpmax-eligible | 0.016% | 6,250 |
| South Asian | 0.0132% | 7,590 |
| Admixed American | 0.01% | 10,003 |
| European (non-Finnish) | 0.00432% | 23,138 |
| Finnishnot grpmax-eligible | 0.00156% | 64,018 |
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
- STK36
- Protein
- p.Pro892=
- Coding
- c.2676C>T
- MANE Select
- NM_015690
- dbSNP
- rs150037304
- Type
- single nucleotide variant
- Location
- chr2:218697128 (GRCh38)
- Gene constraint
- LOEUF 0.912 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 81.22
Similar variants
- STK36 p.Ala1215Thr Uncertain significance ★★ ⚠ same type
- STK36 p.Arg1209Trp Uncertain significance ★★ same type
- STK36 p.Arg218Cys Uncertain significance ★★ ⚠ same type
- STK36 p.Arg56Trp Uncertain significance ★★ ⚠ same type
- STK36 p.Arg59Trp Uncertain significance ★★ ⚠ same type
- STK36 p.Leu1081Pro Uncertain significance ★★ ⚠ same type
- STK36 p.Leu122Pro Uncertain significance ★★ ⚠ same type
- STK36 p.Lys161Arg 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/stk36-p-pro892 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown