AXL p.Ser191Pro
c.571_572delinsCC · rs2516390060 · VCV3061158
Uncertain significance
No assertion criteria
Classification
Uncertain significance
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
Conditions
1
AXL-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 1.5 | GERP 0.22, phastCons 0.095 |
| Regional constraint | o/e 0.97 | unconstrained · MANE · 17 kb · p 0.52 · regional, not allelic |
Population frequency
dbSNP / gnomAD
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- AXL
- Protein
- p.Ser191Pro
- Coding
- c.571_572delinsCC
- MANE Select
- NM_021913
- dbSNP
- rs2516390060
- Type
- Indel
- Location
- chr19:41222041 (GRCh38)
- Gene constraint
- LOEUF 0.625 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 75.57 · 4 PDB
- Residue 191
- the ig-like c2-type 2 domain; a β-strand
Disease context
AXL-related disorder
Similar variants
- AXL p.Ser191Thr Likely benign ★ same residue
- AXL p.Arg217His Uncertain significance ★★ ⚠ same condition
- AXL p.Gly736_Val737insTer Uncertain significance ★ same condition
- AXL p.Arg475Gln Uncertain significance ⚠ same condition
- AXL c.410-7C>T Likely benign same condition
- AXL p.Ala151= Likely benign same condition
- AXL p.Leu264= Likely benign same condition
- AXL p.Leu364= Likely benign same condition
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-ser191pro (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown