AXL p.Pro876=
c.2628C>T · rs61737388 · VCV782648
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 2.23%, afr)
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 -0.083 | GERP -0.79 |
| Overall | ||
| CADD | 6.051 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.23%
African / African-American · 1,671/74,954 alleles
Filtering AF
2.14%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 2.1%
Overall
0.125%
2,006/1,610,510 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 2.23% | 45 |
| Admixed American | 0.184% | 542 |
| Remaining individualsnot grpmax-eligible | 0.167% | 599 |
| Middle Eastern | 0.165% | 605 |
| Ashkenazi Jewishnot grpmax-eligible | 0.0273% | 3,662 |
| European (non-Finnish) | 0.00806% | 12,400 |
| South Asian | 0.00773% | 12,943 |
| East Asian | 0.00223% | 44,846 |
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.Pro876=
- Coding
- c.2628C>T
- MANE Select
- NM_021913
- dbSNP
- rs61737388
- Type
- single nucleotide variant
- Location
- chr19:41259847 (GRCh38)
- Gene constraint
- LOEUF 0.625 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 75.57 · 4 PDB
- Residue 876
- the 'disordered' region
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-pro876 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown