A11D (p.Ala11Asp) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
A11D (p.Ala11Asp) 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 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
A11D (p.Ala11Asp) variant details
- p.Ala11Asp
- gnomAD 14-74493806-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.14
- CADD 16.10
- PolyPhen-2 0.48
- SIFT 0.25
- Population evidence available
- Structural context available
- Literature evidence available