R24R (p.Arg24Arg) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
R24R (p.Arg24Arg) 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 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
R24R (p.Arg24Arg) variant details
- p.Arg24Arg
- gnomAD 14-74493844-A-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.601
- CADD 23.30
- Population evidence available
- Structural context available
- Literature evidence available