AXL p.Phe691=
c.2073C>T · rs750332848 · VCV2713304
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.288%, sas)
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 -3.1 | GERP -3.4 |
| Overall | ||
| CADD | 9.778 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.288%
South Asian · 262/91,080 alleles
Filtering AF
0.259%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.248%
Overall
0.0227%
366/1,614,028 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.288% | 348 |
| Middle Eastern | 0.281% | 356 |
| Remaining individualsnot grpmax-eligible | 0.0208% | 4,808 |
| European (non-Finnish) | 0.00602% | 16,619 |
| Admixed American | 0.00333% | 30,006 |
| East Asian | 0.00223% | 44,880 |
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
- AXL
- Protein
- p.Phe691=
- Coding
- c.2073C>T
- MANE Select
- NM_021913
- dbSNP
- rs750332848
- Type
- single nucleotide variant
- Location
- chr19:41256488 (GRCh38)
- Gene constraint
- LOEUF 0.625 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 75.57 · 4 PDB
- Residue 691
- the protein kinase domain
Similar variants
- AXL p.Arg217His Uncertain significance ★★ ⚠ same type
- AXL p.Glu818Lys Uncertain significance ★★ same type
- AXL p.Pro833Arg Uncertain significance ★★ ⚠ same type
- AXL c.1135-238C>T Benign ★★ same type
- AXL c.1285+62C>G Benign ★★ same type
- AXL c.1286-159G>A Benign ★★ same type
- AXL c.1286-185C>T Benign ★★ same type
- AXL c.1286-59G>A 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/axl-p-phe691 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown