ABLIM3 p.Pro444=
c.1332C>A · rs61733085 · VCV770916
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
low-frequency (popmax 2.43%, mid)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | all four deltas below 0.2 · C>G here scores Δ0.20 · evaluated, not missing |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -0.18 | GERP -2.3, phastCons 0.28 |
| Overall | ||
| CADD | 11.55 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.43%
Middle Eastern · 147/6,060 alleles
Filtering AF
2.11%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.98%
Overall
0.897%
14,483/1,613,892 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 2.43% | 41 |
| Ashkenazi Jewishnot grpmax-eligible | 1.76% | 57 |
| European (non-Finnish) | 1.02% | 98 |
| Remaining individualsnot grpmax-eligible | 0.997% | 100 |
| Admixed American | 0.818% | 122 |
| South Asian | 0.317% | 315 |
| Finnishnot grpmax-eligible | 0.287% | 348 |
| African / African-American | 0.241% | 414 |
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
- ABLIM3
- Protein
- p.Pro444=
- Coding
- c.1332C>A
- MANE Select
- NM_014945
- dbSNP
- rs61733085
- Type
- single nucleotide variant
- Location
- chr5:149242519 (GRCh38)
- Gene constraint
- LOEUF 0.691 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 61.31 · 2 PDB
- Residue 444
- the 'disordered' region
Similar variants
- ABLIM3 p.Arg513Cys Uncertain significance ★★ ⚠ same type
- ABLIM3 p.Ala166Gly Uncertain significance ★ ⚠ same type
- ABLIM3 p.Ala297Val Uncertain significance ★ ⚠ same type
- ABLIM3 p.Ala371Asp Uncertain significance ★ ⚠ same type
- ABLIM3 p.Ala600Pro Uncertain significance ★ ⚠ same type
- ABLIM3 p.Arg15Trp Uncertain significance ★ ⚠ same type
- ABLIM3 p.Arg215Gln Uncertain significance ★ ⚠ same type
- ABLIM3 p.Arg238Cys 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/ablim3-p-pro444 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown