S7* (p.Ser7Ter) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
S7* (p.Ser7Ter) in ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
S7* (p.Ser7Ter) variant details
- p.Ser7Ter
- ExAC rs780853372
- TOPMed rs780853372
- gnomAD rs780853372
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.314
- CADD 33.00
- Population evidence available
- Structural context available