RIIAD1

Chr 1

regulatory subunit of type II PKA R-subunit domain containing 1

Also known as: C1orf230, NCRNA00166

ResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
P/LP submissions
P/LP missense
1.91
LOEUF
DN
Mechanism· predicted
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?
1.91LOEUF
pLI 0.000
Z-score -0.63
OE 1.32 (0.691.91)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.63Z-score
OE missense 0.71 (0.520.98)
27 obs / 38.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.32 (0.691.91)
00.351.4
Missense OE?0.71 (0.520.98)
00.61.4
Synonymous OE?1.03
01.21.6
LoF obs/exp: 6 / 4.6Missense obs/exp: 27 / 38.0Syn Z: -0.09

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

RIIAD1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →