W5C (p.Trp5Cys) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
W5C (p.Trp5Cys) 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 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
W5C (p.Trp5Cys) variant details
- p.Trp5Cys
- gnomAD 14-74493789-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.03
- CADD 14.40
- PolyPhen-2 0.08
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available