PHYHD1
Chr 9phytanoyl-CoA dioxygenase domain containing 1
The protein functions as a 2-oxoglutarate-dependent dioxygenase that catalyzes the iron-dependent conversion of 2-oxoglutarate to succinate and CO2, though it does not directly participate in phytanoyl coenzyme-A metabolism or show activity toward fatty acid CoA thioesters. Based on the provided information, no specific diseases associated with PHYHD1 mutations have been established. The extremely low pLI score suggests this gene is highly tolerant to loss-of-function mutations.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
125 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 30 | 0 | 30 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 1 | 55 | 12 | 0 | 68 |
Likely Benign | 0 | 14 | 0 | 0 | 14 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 1 | 69 | 44 | 0 | 114 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
PHYHD1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools