S8F (p.Ser8Phe) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
S8F (p.Ser8Phe) 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 0.14 / 1. The record also includes population frequency data and structural context.
S8F (p.Ser8Phe) variant details
- p.Ser8Phe
- gnomAD rs1248063555
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- REVEL 0.03
- CADD 7.74
- PolyPhen-2 0.00
- SIFT 0.70
- Population evidence available
- Structural context available