W20L (p.Trp20Leu) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
W20L (p.Trp20Leu) 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 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
W20L (p.Trp20Leu) variant details
- p.Trp20Leu
- gnomAD 14-74493833-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.08
- CADD 18.10
- PolyPhen-2 0.01
- SIFT 0.78
- Population evidence available
- Structural context available
- Literature evidence available