RP2 p.Phe263fs
c.788del · rs2519918555 · VCV2018448
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a haploinsufficient gene (ClinGen) |
|---|---|---|
| NMD | predicted | premature termination codon in exon 3 of 5 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.17 | GERP -1.6, phastCons 0.95 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
No allele count reported in gnomAD v4.1 (AN 1,206,470). 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
- RP2
- Protein
- p.Phe263fs
- Coding
- c.788del
- MANE Select
- NM_006915
- dbSNP
- rs2519918555
- Type
- Deletion
- Location
- chrX:46860003 (GRCh38)
- Structure
- AlphaFold pLDDT 91.64 · 3 PDB
- Residue 263
- a β-strand
Similar variants
- RP2 c.103-13_105del Likely pathogenic ★★ same type
- RP2 p.Arg118fs Pathogenic ★★ same type
- RP2 p.Arg211fs Pathogenic ★★ same type
- RP2 p.Glu269fs Pathogenic/Likely pathogenic ★★ same type
- RP2 p.Gly226fs Likely pathogenic ★★ same type
- RP2 p.Ile137del Pathogenic/Likely pathogenic ★★ same type
- RP2 p.Leu129fs Pathogenic ★★ same type
- RP2 p.Tyr198fs 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/rp2-p-phe263fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown