R35C (p.Arg35Cys) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
R35C (p.Arg35Cys) in ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
R35C (p.Arg35Cys) variant details
- p.Arg35Cys
- gnomAD 14-74494081-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.09
- CADD 24.10
- PolyPhen-2 0.33
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available