MERTK p.Asn498Ser
c.1493_1494inv · VCV1169710
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
Conditions
1
retinitis pigmentosa 38
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 0.96 | GERP -3.7, phastCons 0.023 |
| Regional constraint | o/e 0.90 | unconstrained · MANE · 130 kb · p 0.00043 · regional, not allelic |
Variant & gene context
- Gene
- MERTK
- Protein
- p.Asn498Ser
- Coding
- c.1493_1494inv
- MANE Select
- NM_006343
- Type
- Inversion
- Location
- chr2:111997365 (GRCh38)
- Gene constraint
- LOEUF 0.787 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 72.78 · 42 PDB
- Residue 498
- a UniProt-annotated variant site (in)
Disease context
retinitis pigmentosa 38 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Retinitis pigmentosa (Orphanet):
- Inheritance
- Autosomal dominant, Autosomal recessive, Mitochondrial inheritance
- Onset
- Adolescent, Adult, Childhood
- Prevalence
- 1-5 / 10 000 (Europe)
Similar variants
- MERTK p.Asn498= Benign ★★ same residue
- MERTK c.1296+1G>A Pathogenic/Likely pathogenic ★★ same condition
- MERTK c.1605-2A>G Pathogenic ★★ same condition
- MERTK c.1867+1G>A Likely pathogenic ★★ same condition
- MERTK c.1868-1G>A Pathogenic ★★ same condition
- MERTK c.2189+1G>T Pathogenic ★★ same condition
- MERTK p.Ala768Val Likely pathogenic ★★ same condition
- MERTK p.Arg651Ter Pathogenic ★★ 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-asn498ser (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown