S29C (p.Ser29Cys) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
S29C (p.Ser29Cys) 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 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
S29C (p.Ser29Cys) variant details
- p.Ser29Cys
- gnomAD 14-74494064-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- REVEL 0.05
- CADD 13.90
- PolyPhen-2 0.32
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available