CHCHD10 p.Pro38=
c.114T>G · rs1194251370 · VCV755606
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.081 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -1.6 | GERP -4 |
| Overall | ||
| CADD | 7.106 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- CHCHD10
- Protein
- p.Pro38=
- Coding
- c.114T>G
- MANE Select
- NM_213720
- dbSNP
- rs1194251370
- Type
- single nucleotide variant
- Location
- chr22:23767521 (GRCh38)
- Gene constraint
- LOEUF 1.543 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 63.01 · 5 PDB
- Residue 38
- the 'disordered' region
Similar variants
- CHCHD10 p.Pro38Leu Likely benign ★★ ⚠ same residue
- CHCHD10 p.Pro38Ser Uncertain significance ★ ⚠ same residue
- CHCHD10 p.Ser59Leu Pathogenic/Likely pathogenic ★★ same type
- CHCHD10 c.262-3C>G Uncertain significance ★★ same type
- CHCHD10 c.409+1G>A Uncertain significance ★★ same type
- CHCHD10 p.Ala31Val Uncertain significance ★★ ⚠ same type
- CHCHD10 p.Ala35Thr Uncertain significance ★★ ⚠ same type
- CHCHD10 p.Ala49Val 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/chchd10-p-pro38 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown