A34E (p.Ala34Glu) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
A34E (p.Ala34Glu) 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 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A34E (p.Ala34Glu) variant details
- p.Ala34Glu
- gnomAD 14-74494079-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.10
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.58
- Population evidence available
- Structural context available
- Literature evidence available