COG8 p.Ala38=
c.114C>T · rs770360912 · VCV740460
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no allele count reported in gnomAD v4.1 (AN 1,590,990)
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 -0.73 | GERP -4.9 |
| Overall | ||
| CADD | 9.395 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
No allele count reported in gnomAD v4.1 (AN 1,590,990). 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
- COG8
- Protein
- p.Ala38=
- Coding
- c.114C>T
- MANE Select
- NM_032382
- dbSNP
- rs770360912
- Type
- single nucleotide variant
- Location
- chr16:69339439 (GRCh38)
- Gene constraint
- LOEUF 1.257 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 80.67
Similar variants
- COG8 c.1583-1G>A Pathogenic/Likely pathogenic ★★ same type
- COG8 p.Ala16Gly Uncertain significance ★★ ⚠ same type
- COG8 p.Ala2Val Uncertain significance ★★ ⚠ same type
- COG8 p.Ala458Val Uncertain significance ★★ ⚠ same type
- COG8 p.Ala5Val Uncertain significance ★★ ⚠ same type
- COG8 p.Arg102Cys Uncertain significance ★★ ⚠ same type
- COG8 p.Arg140Gln Uncertain significance ★★ ⚠ same type
- COG8 p.Arg244Lys 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/cog8-p-ala38 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown