R22S (p.Arg22Ser) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
R22S (p.Arg22Ser) 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 0.25 / 1. The record also includes population frequency data and structural context.
R22S (p.Arg22Ser) variant details
- p.Arg22Ser
- 1000Genomes rs571679292
- ExAC rs571679292
- TOPMed rs571679292
- gnomAD rs571679292
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.20
- CADD 19.70
- PolyPhen-2 0.00
- SIFT 0.70
- Population evidence available
- Structural context available