W5S (p.Trp5Ser) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
W5S (p.Trp5Ser) 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 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
W5S (p.Trp5Ser) variant details
- p.Trp5Ser
- gnomAD 14-74493788-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.171
- REVEL 0.09
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.62
- Population evidence available
- Structural context available
- Literature evidence available