PRODH p.Ala280Val
c.839C>T · rs983184187 · VCV2362944
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
Inborn genetic diseases
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.032 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | <0.2 | all four deltas below 0.2 · G>C here scores Δ0.53 · evaluated, not missing |
| Constraint at this position | ||
| Conservation | phyloP 0.2 | GERP -2.3 |
| Regional constraint | o/e 0.12 | constrained · MANE · 23 kb · p 1.7e-05 · regional, not allelic |
| Overall | ||
| CADD | 12.08 | 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
- PRODH
- Protein
- p.Ala280Val
- Coding
- c.839C>T
- MANE Select
- NM_016335
- dbSNP
- rs983184187
- Type
- single nucleotide variant
- Location
- chr22:18922827 (GRCh38)
- Structure
- AlphaFold pLDDT 85.29
Similar variants
- PRODH p.Tyr412Ter Pathogenic ★★ same condition
- PRODH p.Arg589Trp Uncertain significance ★★ same condition
- PRODH p.Ser285Gly Uncertain significance ★★ same condition
- PRODH p.Ala58Thr Benign/Likely benign ★★ same condition
- PRODH p.Pro30Ser Benign/Likely benign ★★ same condition
- PRODH p.Thr275Asn Benign/Likely benign ★★ same condition
- PRODH p.Trp185Ter Benign/Likely benign ★★ same condition
- PRODH p.Ala32Ser 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/prodh-p-ala280val (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown