Q33H (p.Gln33His) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
Q33H (p.Gln33His) 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 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
Q33H (p.Gln33His) variant details
- p.Gln33His
- gnomAD 14-74494077-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.157
- REVEL 0.04
- CADD 19.90
- PolyPhen-2 0.08
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available