APOBR p.Ala345=
c.1035T>C · rs62034313 · VCV3127979
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.0083%, amr)
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 -16 | GERP -0.28 |
| Overall | ||
| CADD | 0.901 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0083%
Admixed American · 4/48,210 alleles
Filtering AF
0.00618%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0057%
Overall
0.00649%
98/1,509,286 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.0083% | 12,053 |
| European (non-Finnish) | 0.00748% | 13,375 |
| African / African-American | 0.00509% | 19,639 |
| South Asian | 0.00382% | 26,173 |
| Remaining individualsnot grpmax-eligible | 0.00342% | 29,265 |
| East Asian | 0.0023% | 43,416 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- APOBR
- Protein
- p.Ala345=
- Coding
- c.1035T>C
- MANE Select
- NM_018690
- dbSNP
- rs62034313
- Type
- single nucleotide variant
- Location
- chr16:28496076 (GRCh38)
- Gene constraint
- LOEUF 0.99 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 41.14
- Residue 345
- the 'disordered' region
Similar variants
- APOBR p.Gln807Pro Benign ★★ same type
- APOBR p.Gly350= Likely benign ★★ same type
- APOBR p.Ala241Gly Uncertain significance ★ ⚠ same type
- APOBR p.Ala283Val Uncertain significance ★ ⚠ same type
- APOBR p.Ala292Val Uncertain significance ★ ⚠ same type
- APOBR p.Ala301Thr Uncertain significance ★ ⚠ same type
- APOBR p.Ala33Val Uncertain significance ★ ⚠ same type
- APOBR p.Ala514Asp 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/apobr-p-ala345 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown