L30W (p.Leu30Trp) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
L30W (p.Leu30Trp) 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 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
L30W (p.Leu30Trp) variant details
- p.Leu30Trp
- gnomAD 14-74494063-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.328
- CADD 21.30
- Population evidence available
- Structural context available
- Literature evidence available