AXL p.Val119=
c.357G>A · rs927126175 · VCV2841867
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
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 |
|---|---|---|
| Pangolin | Δ0.20 | loss · gain 0.03 · not in the SpliceAI release · independent |
| Constraint at this position | ||
| Conservation | phyloP 5.7 | GERP -1, phastCons 1 |
| Overall | ||
| CADD | 10.99 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- AXL
- Protein
- p.Val119=
- Coding
- c.357G>A
- MANE Select
- NM_021913
- dbSNP
- rs927126175
- Type
- single nucleotide variant
- Location
- chr19:41221194 (GRCh38)
- Gene constraint
- LOEUF 0.625 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 75.57 · 4 PDB
- Residue 119
- the ig-like c2-type 1 domain; a β-strand
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-val119 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown