Q33R (p.Gln33Arg) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
Q33R (p.Gln33Arg) 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 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
Q33R (p.Gln33Arg) variant details
- p.Gln33Arg
- gnomAD 14-74494071-AC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.288
- CADD 22.50
- Population evidence available
- Structural context available
- Literature evidence available