EYS p.Phe2734fs
c.8196_8200del · rs2149631759 · VCV1200022
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | escapes | premature termination codon within the last 50 nt of the penultimate exon (42 of 43, 33 nt from its 3' end) — the truncated protein is likely expressed. PVS1 input, not an applied code |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 3.7 | GERP 1.1, 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.Phe2734fs
- Coding
- c.8196_8200del
- MANE Select
- NM_001142800
- dbSNP
- rs2149631759
- Type
- Deletion
- Location
- chr6:63726552 (GRCh38)
- Gene constraint
- LOEUF 0.96 · pLI <0.01 (gnomAD)
- Residue 2734
- the laminin g-like 4 domain
Similar variants
- EYS c.1057del Pathogenic/Likely pathogenic ★★ same type
- EYS c.5928-3_5928-1del Pathogenic/Likely pathogenic ★★ same type
- EYS c.5928del Pathogenic ★★ same type
- EYS c.6079-3_6079-2del Pathogenic/Likely pathogenic ★★ same type
- EYS c.749del Pathogenic/Likely pathogenic ★★ same type
- EYS p.Ala1520fs Pathogenic/Likely pathogenic ★★ same type
- EYS p.Ala1557fs Pathogenic/Likely pathogenic ★★ same type
- EYS p.Ala2957fs 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-phe2734fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown