T10R (p.Thr10Arg) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
T10R (p.Thr10Arg) 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.
T10R (p.Thr10Arg) variant details
- p.Thr10Arg
- gnomAD 14-74493800-TA-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.329
- CADD 18.10
- Population evidence available
- Structural context available
- Literature evidence available