MPPED1
Chr 22metallophosphoesterase domain containing 1
Also known as: 239AB, C22orf1, FAM1A
Predicted to enable hydrolase activity. [provided by Alliance of Genome Resources, Jul 2025]
ResearchGenerating clinical summary…
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.83LOEUF
pLI 0.002
Z-score 2.06
OE 0.44 (0.25–0.83)
Typical tolerance to LoF variation
Missense Constraint?
2.60Z-score
OE missense 0.51 (0.44–0.59)
113 obs / 222.2 exp
Moderately missense-constrained (top ~2.5%)
Observed / Expected Ratios?
LoF OE?0.44 (0.25–0.83)
0≤0.351.4
Missense OE?0.51 (0.44–0.59)
0≤0.61.4
Synonymous OE?0.92
0≤1.21.6
LoF obs/exp: 7 / 15.8Missense obs/exp: 113 / 222.2Syn Z: 0.61
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MPPED1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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