MERTK p.Pro5fs
c.14del · rs2466693520 · VCV2119008
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 1 of 19 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.81 | GERP -0.69, phastCons 0.001 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
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
- MERTK
- Protein
- p.Pro5fs
- Coding
- c.14del
- MANE Select
- NM_006343
- dbSNP
- rs2466693520
- Type
- Deletion
- Location
- chr2:111898746 (GRCh38)
- Gene constraint
- LOEUF 0.787 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 72.78 · 42 PDB
Similar variants
- MERTK p.Pro5Leu Uncertain significance ★★ ⚠ same residue
- MERTK p.Pro5Arg Uncertain significance ★ ⚠ same residue
- MERTK p.Pro5= Likely benign ★ same residue
- MERTK p.Arg755fs Pathogenic/Likely pathogenic ★★ same type
- MERTK p.Asn575fs Pathogenic ★★ same type
- MERTK p.Asp169fs Pathogenic ★★ same type
- MERTK p.Cys738fs Pathogenic ★★ same type
- MERTK p.Glu792_Ile793insTer Pathogenic ★★ 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/mertk-p-pro5fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown