CHP1 p.Pro61=
c.183A>G · VCV4924328
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. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 1.1 | GERP -0.56, phastCons 0.43 |
| Overall | ||
| CADD | 8.905 | 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
- CHP1
- Protein
- p.Pro61=
- Coding
- c.183A>G
- MANE Select
- NM_007236
- Type
- single nucleotide variant
- Location
- chr15:41256952 (GRCh38)
- Gene constraint
- LOEUF 0.691 · pLI 0.48 (gnomAD)
- Structure
- AlphaFold pLDDT 89.45 · 4 PDB
- Residue 61
- the ef-hand 1 domain
Similar variants
- CHP1 c.222-15A>G Likely benign ★ same type
- CHP1 c.412-4C>T Likely benign ★ same type
- CHP1 p.Arg158= Benign same type
- CHP1 p.Leu38= Likely 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/chp1-p-pro61 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown