A16R (p.Ala16Arg) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
A16R (p.Ala16Arg) 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 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A16R (p.Ala16Arg) variant details
- p.Ala16Arg
- gnomAD 14-74493819-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.237
- CADD 22.10
- Population evidence available
- Structural context available
- Literature evidence available