CIC p.Ala263Val
c.788C>T · VCV4525938
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no allele count reported in gnomAD v4.1 (AN 398,518)
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 5.8 | GERP 1.2, phastCons 1 |
| Overall | ||
| CADD | 19.62 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
No allele count reported in gnomAD v4.1 (AN 398,518). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- CIC
- Protein
- p.Ala263Val
- Coding
- c.788C>T
- MANE Select
- NM_005984 · reported on NM_001386298
- Type
- single nucleotide variant
- Location
- chr19:42272571 (GRCh38)
- Structure
- AlphaFold pLDDT 75.09
- Residue 263
- a UniProt-annotated variant site (in d2l2ad; no protein detected by western blot in patient fibroblasts; severely reduced rates of citrate transport)
Similar variants
- SLC25A1 p.Gly263Ser Uncertain significance ★★ ⚠ same residue
- SLC25A1 p.Gly263Arg Uncertain significance ★ ⚠ same residue
- CIC c.3179+1G>A Likely pathogenic ★★ same type
- CIC c.3179+1G>T Pathogenic ★★ same type
- CIC c.5903-2A>G Likely pathogenic ★★ same type
- CIC p.Asn1136Ser Likely pathogenic ★★ same type
- CIC p.Gln1134Ter Pathogenic ★★ same type
- CIC p.Gln1799Ter 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/cic-p-ala263val (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown