MICU1 p.Pro264=
c.792A>C · rs2495370347 · VCV2111926
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 0.045 | GERP -4.5, phastCons 0.068 |
| Overall | ||
| CADD | 7.073 | 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
- MICU1
- Protein
- p.Pro264=
- Coding
- c.792A>C
- MANE Select
- NM_001195518
- dbSNP
- rs2495370347
- Type
- single nucleotide variant
- Location
- chr10:72475241 (GRCh38)
- Gene constraint
- LOEUF 1.019 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 76.82 · 12 PDB
- Residue 264
- a UniProt-annotated variant site (in mpxps); an α-helix
Similar variants
- MICU1 p.Pro264Thr Uncertain significance ★ ⚠ same residue
- MICU1 c.1072-1G>A Pathogenic ★★ same type
- MICU1 c.1072-1G>C Pathogenic ★★ same type
- MICU1 c.161+1G>A Pathogenic/Likely pathogenic ★★ same type
- MICU1 c.735+1G>A Pathogenic/Likely pathogenic ★★ same type
- MICU1 c.933+2T>C Likely pathogenic ★★ same type
- MICU1 p.Arg119Ter Pathogenic ★★ same type
- MICU1 p.Arg129Pro Pathogenic/Likely pathogenic ★★ 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/micu1-p-pro264 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown