S8T (p.Ser8Thr) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
S8T (p.Ser8Thr) 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 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
S8T (p.Ser8Thr) variant details
- p.Ser8Thr
- gnomAD 14-74493796-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.10
- CADD 10.40
- PolyPhen-2 0.00
- SIFT 0.40
- Population evidence available
- Structural context available
- Literature evidence available