EYS p.Ile149fs
c.445dup · rs2533028755 · VCV2897771
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 4 of 43 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 5.4 | GERP 1.8, phastCons 1 |
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
- EYS
- Protein
- p.Ile149fs
- Coding
- c.445dup
- MANE Select
- NM_001142800
- dbSNP
- rs2533028755
- Type
- Duplication
- Location
- chr6:65494965 (GRCh38)
- Gene constraint
- LOEUF 0.96 · pLI <0.01 (gnomAD)
Similar variants
- EYS p.Ile149Leu Uncertain significance ★ ⚠ same residue
- EYS p.Ile149= Likely benign ★ same residue
- EYS c.2021_2023+1dup Likely pathogenic ★★ same type
- EYS p.Arg2946fs Pathogenic/Likely pathogenic ★★ same type
- EYS p.Arg3094fs Pathogenic/Likely pathogenic ★★ same type
- EYS p.Asn2803fs Pathogenic ★★ same type
- EYS p.Asn443fs Pathogenic/Likely pathogenic ★★ same type
- EYS p.Asn654fs Pathogenic/Likely 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/eys-p-ile149fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown