PRR12 p.Arg280Pro
c.839G>C · VCV4145132
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
AlphaMissense
ambiguous
0.528 · ACMG-weighted
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
Inborn genetic diseases
Computational evidence
| Protein change | ||
| AlphaMissense | 0.528 | ambiguous |
|---|---|---|
| REVEL | 0.379 | indeterminate |
| SaProt | LLR -4.19 | tolerated |
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 11 | GERP 1.5, phastCons 1 |
| Regional constraint | o/e 1.05 | unconstrained · MANE · 1,070 bp · p 0.23 · regional, not allelic |
| Overall | ||
| CADD | 25.5 | PHRED · no single calibrated threshold — expert panels disagree |
AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.
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
- PRR12
- Protein
- p.Arg280Pro
- Coding
- c.839G>C
- MANE Select
- NM_020719
- Type
- single nucleotide variant
- Location
- chr19:49595174 (GRCh38)
- Gene constraint
- LOEUF 0.18 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 43.84
- Residue 280
- the 'disordered' region; a UniProt-annotated variant site (in noc1)
Similar variants
- PRR12 p.Ala1190Ser Uncertain significance ★★ ⚠ same condition
- PRR12 p.Ala82Gly Uncertain significance ★★ ⚠ same condition
- PRR12 p.Arg1755Gln Uncertain significance ★★ ⚠ same condition
- PRR12 p.Asp1109Tyr Uncertain significance ★★ ⚠ same condition
- PRR12 p.Glu1100Lys Uncertain significance ★★ ⚠ same condition
- PRR12 p.Glu943Ala Uncertain significance ★★ ⚠ same condition
- PRR12 p.Gly1566Ser Uncertain significance ★★ ⚠ same condition
- PRR12 p.Gly963Ser 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/prr12-p-arg280pro (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown