A16E (p.Ala16Glu) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
A16E (p.Ala16Glu) 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 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
A16E (p.Ala16Glu) variant details
- p.Ala16Glu
- gnomAD 14-74493821-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.07
- CADD 9.64
- PolyPhen-2 0.06
- SIFT 0.25
- Population evidence available
- Structural context available
- Literature evidence available