MERTK p.Ile897=
c.2691C>T · rs1361259046 · VCV1149943
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
very rare (popmax 0.00401%, afr)
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 -5.9 | GERP -3.1 |
| Overall | ||
| CADD | 0.548 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00401%
African / African-American · 3/74,900 alleles
Filtering AF
0.00106%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000495%
Overall
0.000682%
11/1,614,046 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.00401% | 24,967 |
| Remaining individualsnot grpmax-eligible | 0.0032% | 31,243 |
| East Asian | 0.00223% | 44,898 |
| South Asian | 0.0022% | 45,544 |
| Admixed American | 0.00167% | 60,004 |
| Finnishnot grpmax-eligible | 0.00156% | 64,024 |
| European (non-Finnish) | 8.47e-05% | 1,180,043 |
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.Ile897=
- Coding
- c.2691C>T
- MANE Select
- NM_006343
- dbSNP
- rs1361259046
- Type
- single nucleotide variant
- Location
- chr2:112028555 (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-ile897 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown