Heavy data lifting in progress
Checking gnomAD frequencies...
Heavy data lifting in progress
Checking gnomAD frequencies...
caveolae associated protein 4
Also known as: MURC, cavin-4
This gene encodes a protein containing two coiled-coil regions. The encoded protein promotes Rho/ROCK (Rho-kinase) signaling in cardiac muscles cells, and may facilitate myofibrillar organization. [provided by RefSeq, Jun 2013]
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
160 submitted variants in ClinVar
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 31 | 0 | 31 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 3 | 73 | 6 | 0 | 82 |
Likely Benign | 0 | 5 | 8 | 15 | 28 |
Benign | 0 | 3 | 7 | 2 | 12 |
Conflicting | — | 3 | |||
| Total | 3 | 81 | 54 | 17 | 158 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →CAVIN4 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
1 OMIM entry
Links to major genomics databases and tools
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →Links to major genomics databases and tools