A28D (p.Ala28Asp) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
A28D (p.Ala28Asp) 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 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A28D (p.Ala28Asp) variant details
- p.Ala28Asp
- gnomAD 14-74494061-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.08
- CADD 18.90
- PolyPhen-2 0.15
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available