A28S (p.Ala28Ser) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
A28S (p.Ala28Ser) 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 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A28S (p.Ala28Ser) variant details
- p.Ala28Ser
- gnomAD 14-74494060-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.02
- CADD 14.90
- PolyPhen-2 0.01
- SIFT 0.47
- Population evidence available
- Structural context available
- Literature evidence available