T13A (p.Thr13Ala) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
T13A (p.Thr13Ala) 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.
T13A (p.Thr13Ala) variant details
- p.Thr13Ala
- gnomAD 14-74493811-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.129
- REVEL 0.02
- CADD 6.54
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available