ABL1 p.Pro1108=
c.3324A>G · rs1056171 · VCV1301303
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 4 submitters
gnomAD v4.1
Common
common (popmax 82.8%, afr) — too common for a highly-penetrant pathogenic allele
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 -12 | GERP -3.8 |
| Overall | ||
| CADD | 0.018 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
82.8%
African / African-American · 62,147/75,018 alleles
Filtering AF
82.3%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 82.1%
Overall
50.1%
808,039/1,613,376 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 82.8% | 1 |
| Admixed American | 70.9% | 1 |
| East Asian | 59.2% | 2 |
| Middle Eastern | 57.6% | 2 |
| Remaining individualsnot grpmax-eligible | 52.4% | 2 |
| South Asian | 51.3% | 2 |
| Ashkenazi Jewishnot grpmax-eligible | 50% | 2 |
| Finnishnot grpmax-eligible | 48.6% | 2 |
| European (non-Finnish) | 46.4% | 2 |
| Amishnot grpmax-eligible | 44.6% | 2 |
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
- ABL1
- Protein
- p.Pro1108=
- Coding
- c.3324A>G
- MANE Select
- NM_005157
- dbSNP
- rs1056171
- Type
- single nucleotide variant
- Location
- chr9:130885614 (GRCh38)
- Gene constraint
- LOEUF 0.19 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 64.68 · 85 PDB
- Residue 1108
- a β-strand; the 'f-actin-binding' region
Similar variants
- ABL1 p.Pro1108Leu Uncertain significance ★ same residue
- ABL1 p.Ala337Thr Pathogenic ★★ ⚠ same type
- ABL1 p.Ala433Thr Likely pathogenic ★★ ⚠ same type
- ABL1 p.Asp504Gly Likely pathogenic ★★ ⚠ same type
- ABL1 p.Glu509Lys Pathogenic/Likely pathogenic ★★ same type
- ABL1 p.Gly254Arg Pathogenic/Likely pathogenic ★★ same type
- ABL1 p.Pro230Leu Likely pathogenic ★★ ⚠ same type
- ABL1 p.Trp99Arg 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/abl1-p-pro1108 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown