A16V (p.Ala16Val) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
A16V (p.Ala16Val) 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 0.15 / 1. The record also includes population frequency data and structural context.
A16V (p.Ala16Val) variant details
- p.Ala16Val
- TOPMed rs868238817
- gnomAD rs868238817
- Missense
- Variant Prioritization Score for Impact Estimate 0.145
- REVEL 0.03
- CADD 7.56
- PolyPhen-2 0.00
- SIFT 0.52
- Population evidence available
- Structural context available