G23G (p.Gly23Gly) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
G23G (p.Gly23Gly) 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 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
G23G (p.Gly23Gly) variant details
- p.Gly23Gly
- rs2086811374
- gnomAD 14-74493843-C-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.628
- CADD 27.40
- Population evidence available
- Structural context available
- Literature evidence available