T18S (p.Thr18Ser) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
T18S (p.Thr18Ser) 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 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
T18S (p.Thr18Ser) variant details
- p.Thr18Ser
- gnomAD 14-74493827-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.05
- CADD 15.30
- PolyPhen-2 0.00
- SIFT 0.59
- Population evidence available
- Structural context available
- Literature evidence available