PCARE p.Pro800=
c.2400C>G · rs2465275531 · VCV3028825
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
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 1.1 | GERP -3.6, phastCons 0.41 |
| Overall | ||
| CADD | 5.245 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- PCARE
- Protein
- p.Pro800=
- Coding
- c.2400C>G
- MANE Select
- NM_001029883
- dbSNP
- rs2465275531
- Type
- single nucleotide variant
- Location
- chr2:29071862 (GRCh38)
- Gene constraint
- LOEUF 1.032 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 44.15 · 1 PDB
Similar variants
- PCARE p.Pro800Thr Uncertain significance ★ ⚠ same residue
- PCARE c.3668+2T>C Likely pathogenic ★★ same condition
- PCARE p.Arg984Ter Pathogenic ★★ same condition
- PCARE p.Leu307Ter Pathogenic/Likely pathogenic ★★ same condition
- PCARE p.Trp1001Ter Pathogenic/Likely pathogenic ★★ same condition
- PCARE p.Trp720Ter Pathogenic/Likely pathogenic ★★ same condition
- PCARE p.Trp941Ter Pathogenic/Likely pathogenic ★★ same condition
- PCARE p.Arg1177Gln Uncertain significance ★★ ⚠ 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/pcare-p-pro800 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown