T18I (p.Thr18Ile) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
T18I (p.Thr18Ile) 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.
T18I (p.Thr18Ile) variant details
- p.Thr18Ile
- gnomAD 14-74493827-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.09
- CADD 11.30
- PolyPhen-2 0.00
- SIFT 0.46
- Population evidence available
- Structural context available
- Literature evidence available