T18A (p.Thr18Ala) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
T18A (p.Thr18Ala) 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 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
T18A (p.Thr18Ala) variant details
- p.Thr18Ala
- gnomAD 14-74493826-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- REVEL 0.01
- CADD 9.48
- PolyPhen-2 0.00
- SIFT 0.65
- Population evidence available
- Structural context available
- Literature evidence available