MATK p.Pro465=
c.1395C>T · rs192330927 · VCV785911
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 3.45%, amr)
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 -4.6 | GERP -4 |
| Overall | ||
| CADD | 1.7 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
3.45%
Admixed American · 1,728/50,048 alleles
Filtering AF
3.32%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 3.26%
Overall
0.122%
1,929/1,576,168 alleles · low-frequency
exomes 1,489/1,423,862 · genomes 440/152,306 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 3.45% | 29 |
| Remaining individualsnot grpmax-eligible | 0.113% | 882 |
| Finnishnot grpmax-eligible | 0.07% | 1,428 |
| African / African-American | 0.048% | 2,085 |
| Ashkenazi Jewishnot grpmax-eligible | 0.0217% | 4,616 |
| European (non-Finnish) | 0.00395% | 25,332 |
| South Asian | 0.00231% | 43,325 |
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
- MATK
- Protein
- p.Pro465=
- Coding
- c.1395C>T
- MANE Select
- NM_139355
- dbSNP
- rs192330927
- Type
- single nucleotide variant
- Location
- chr19:3778312 (GRCh38)
- Gene constraint
- LOEUF 0.921 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 84.24 · 3 PDB
- Residue 465
- the protein kinase domain
Similar variants
- MATK p.His34= Likely benign ★★ same type
- MATK p.Ala113Ser Uncertain significance ★ ⚠ same type
- MATK p.Ala132Ser Uncertain significance ★ ⚠ same type
- MATK p.Ala150Thr Uncertain significance ★ ⚠ same type
- MATK p.Ala327Ser Uncertain significance ★ ⚠ same type
- MATK p.Ala466Thr Uncertain significance ★ ⚠ same type
- MATK p.Ala496Asp Uncertain significance ★ ⚠ same type
- MATK p.Arg151Cys 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/matk-p-pro465 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown