Q33K (p.Gln33Lys) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
Q33K (p.Gln33Lys) 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 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
Q33K (p.Gln33Lys) variant details
- p.Gln33Lys
- gnomAD 14-74494075-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.109
- REVEL 0.06
- CADD 3.67
- PolyPhen-2 0.00
- SIFT 0.92
- Population evidence available
- Structural context available
- Literature evidence available