Q33E (p.Gln33Glu) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
Q33E (p.Gln33Glu) 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 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
Q33E (p.Gln33Glu) variant details
- p.Gln33Glu
- gnomAD 14-74494075-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0854
- REVEL 0.03
- CADD 1.73
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available