Q33L (p.Gln33Leu) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
Q33L (p.Gln33Leu) 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 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
Q33L (p.Gln33Leu) variant details
- p.Gln33Leu
- gnomAD 14-74494076-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0493
- REVEL 0.04
- CADD 1.09
- PolyPhen-2 0.00
- SIFT 0.33
- Population evidence available
- Structural context available
- Literature evidence available