CHTF18 p.Pro365=
c.1095G>A · VCV3833352
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00668%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.008 | strongly benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -0.4 | GERP -4, phastCons 0.077 |
| Overall | ||
| CADD | 6.831 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00668%
African / African-American · 5/74,842 alleles
Filtering AF
0.00255%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00162%
Overall
0.00112%
18/1,601,846 alleles · very rare
exomes 16/1,449,578 · genomes 2/152,268 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.00668% | 14,968 |
| East Asian | 0.00448% | 22,316 |
| Finnishnot grpmax-eligible | 0.00173% | 57,886 |
| Admixed American | 0.00168% | 59,474 |
| South Asian | 0.00111% | 90,136 |
| European (non-Finnish) | 0.00068% | 147,137 |
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
- CHTF18
- Protein
- p.Pro365=
- Coding
- c.1095G>A
- MANE Select
- NM_022092
- Type
- single nucleotide variant
- Location
- chr16:791361 (GRCh38)
- Gene constraint
- LOEUF 1.712 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 64.97 · 10 PDB
- Residue 365
- a β-strand
Similar variants
- CHTF18 p.Pro365Leu Uncertain significance ★ ⚠ same residue
- CHTF18 p.Ala770= Benign ★★ same type
- CHTF18 p.Arg804Cys Benign ★★ same type
- CHTF18 p.Asn820= Benign ★★ same type
- CHTF18 p.Asp284Glu Benign ★★ same type
- CHTF18 p.Glu233Lys Benign ★★ same type
- CHTF18 p.His179= Benign ★★ same type
- CHTF18 p.Leu541= 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/chtf18-p-pro365 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown