K30* (p.Lys30Ter) variant of CAV3 (Caveolin-3)
K30* (p.Lys30Ter) in CAV3 (Caveolin-3) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
K30* (p.Lys30Ter) variant details
- p.Lys30Ter
- rs730880425
- ClinGen CA295962
- ClinVar RCV000157847
- ClinVar RCV000766694
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.74
- CADD 48.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available