P32L (p.Pro32Leu) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
P32L (p.Pro32Leu) 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 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
P32L (p.Pro32Leu) variant details
- p.Pro32Leu
- gnomAD 14-74494073-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0806
- REVEL 0.02
- CADD 8.64
- PolyPhen-2 0.00
- SIFT 0.43
- Population evidence available
- Structural context available
- Literature evidence available