MERTK p.Ser991=
c.2973C>T · rs2466929846 · VCV3028886
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
inherited retinal dystrophy
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 0.47 | GERP 0.84, phastCons 0.96 |
| Overall | ||
| CADD | 7.986 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- MERTK
- Protein
- p.Ser991=
- Coding
- c.2973C>T
- MANE Select
- NM_006343
- dbSNP
- rs2466929846
- Type
- single nucleotide variant
- Location
- chr2:112028837 (GRCh38)
- Gene constraint
- LOEUF 0.787 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 72.78 · 42 PDB
Similar variants
- MERTK c.2189+1G>T Pathogenic ★★ same condition
- MERTK p.Ala768Thr Pathogenic/Likely pathogenic ★★ same condition
- MERTK p.Arg651Ter Pathogenic ★★ same condition
- MERTK p.Arg722Ter Pathogenic ★★ same condition
- MERTK p.Arg727Ter Pathogenic ★★ same condition
- MERTK p.Arg732Ter Pathogenic ★★ same condition
- MERTK p.Arg775Ter Pathogenic ★★ same condition
- MERTK p.Arg844Cys 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-ser991 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown