W20C (p.Trp20Cys) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
W20C (p.Trp20Cys) 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 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
W20C (p.Trp20Cys) variant details
- p.Trp20Cys
- gnomAD 14-74493834-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.10
- CADD 22.60
- PolyPhen-2 0.44
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available