S8P (p.Ser8Pro) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
S8P (p.Ser8Pro) 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
S8P (p.Ser8Pro) variant details
- p.Ser8Pro
- gnomAD 14-74493796-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.09
- CADD 15.10
- PolyPhen-2 0.00
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available