W5L (p.Trp5Leu) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
W5L (p.Trp5Leu) 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 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
W5L (p.Trp5Leu) variant details
- p.Trp5Leu
- gnomAD 14-74493786-C-CT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.203
- CADD 17.30
- Population evidence available
- Structural context available
- Literature evidence available