APBA2 p.Pro605=
c.1815G>A · rs140055297 · VCV434250
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 5 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.58%, mid)
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 -13 | GERP -3.7 |
| Overall | ||
| CADD | 0.107 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.58%
Middle Eastern · 96/6,062 alleles
Filtering AF
1.33%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.23%
Overall
0.638%
10,297/1,612,960 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 1.58% | 63 |
| Ashkenazi Jewishnot grpmax-eligible | 1.15% | 87 |
| Remaining individualsnot grpmax-eligible | 0.765% | 131 |
| European (non-Finnish) | 0.718% | 139 |
| Admixed American | 0.615% | 163 |
| African / African-American | 0.352% | 284 |
| Finnishnot grpmax-eligible | 0.302% | 331 |
| South Asian | 0.0955% | 1,047 |
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
- APBA2
- Protein
- p.Pro605=
- Coding
- c.1815G>A
- MANE Select
- NM_001353788
- dbSNP
- rs140055297
- Type
- single nucleotide variant
- Location
- chr15:29106717 (GRCh38)
- Gene constraint
- LOEUF 0.524 · pLI 0.78 (gnomAD)
- Structure
- AlphaFold pLDDT 59.74
- Residue 605
- the pdz 1 domain
Similar variants
- APBA2 p.Pro605Leu Uncertain significance ★ ⚠ same residue
- APBA2 p.Val77Met Uncertain significance ★★ ⚠ same type
- APBA2 c.1216-9T>C Benign ★★ same type
- APBA2 c.1525-8C>G Likely benign ★★ same type
- APBA2 c.1705-9C>T Benign ★★ same type
- APBA2 p.Asp87= Benign ★★ same type
- APBA2 p.Gly206= Benign ★★ same type
- APBA2 p.His127= 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/apba2-p-pro605 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown