RBP1 p.Pro48=
c.144G>A · rs2472787558 · VCV2817399
⚠ Built without this gene's context — gene constraint and dosage, protein structure, pathways, panels and related-variant links were not looked up for this page. why
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not looked up on this page · why |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -0.6 | GERP 0.34, phastCons 0.5 |
| Overall | ||
| CADD | 9.447 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
No allele count reported in gnomAD v4.1 (AN 1,591,488). 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
- RBP1
- Protein
- p.Pro48=
- Coding
- c.144G>A
- MANE Select
- NM_002899
- dbSNP
- rs2472787558
- Type
- single nucleotide variant
- Location
- chr3:139539575 (GRCh38)
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/rbp1-p-pro48 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown