A2D (p.Ala2Asp) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
A2D (p.Ala2Asp) 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 0.39 / 1. The record also includes population frequency data and structural context.
A2D (p.Ala2Asp) variant details
- p.Ala2Asp
- ExAC rs777458795
- TOPMed rs777458795
- gnomAD rs777458795
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.18
- CADD 26.00
- PolyPhen-2 0.84
- SIFT 0.00
- Population evidence available
- Structural context available