MERTK p.Ala944Thr
c.2830G>A · rs572549911 · VCV852127
Computational evidence
| Protein change | ||
| AlphaMissense | 0.0657 | likely benign |
|---|---|---|
| REVEL | 0.071 | moderately benign-leaning |
| SaProt | LLR -6.11 | tolerated |
| ⇒ AlphaMissense, REVEL and SaProt all call this tolerated. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 0.61 | GERP -1.6, phastCons 0.003 |
| Regional constraint | o/e 0.90 | unconstrained · MANE · 130 kb · p 0.00043 · regional, not allelic |
| Overall | ||
| CADD | 10.98 | PHRED · no single calibrated threshold — expert panels disagree |
ClinVar classifies this uncertain; the computational predictors unanimously lean tolerated — a triage signal, not a reclassification
AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.
Population frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.198% | 505 |
| South Asian | 0.0296% | 3,374 |
| Remaining individualsnot grpmax-eligible | 0.0112% | 8,930 |
| European (non-Finnish) | 0.00127% | 78,670 |
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
- MERTK
- Protein
- p.Ala944Thr
- Coding
- c.2830G>A
- MANE Select
- NM_006343
- dbSNP
- rs572549911
- Type
- single nucleotide variant
- Location
- chr2:112028694 (GRCh38)
- Gene constraint
- LOEUF 0.787 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 72.78 · 42 PDB
Similar variants
- MERTK p.Ala29Gly Uncertain significance ★★ ⚠ same condition
- MERTK p.Ala353Val Uncertain significance ★★ ⚠ same condition
- MERTK p.Ala773Thr Uncertain significance ★★ ⚠ same condition
- MERTK p.Arg237Cys Uncertain significance ★★ ⚠ same condition
- MERTK p.Arg557Gln Uncertain significance ★★ ⚠ same condition
- MERTK p.Arg629Trp Uncertain significance ★★ ⚠ same condition
- MERTK p.Arg796Gln Uncertain significance ★★ ⚠ same condition
- MERTK p.Arg796Trp Uncertain significance ★★ ⚠ 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/mertk-p-ala944thr (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown