A12V (p.Ala12Val) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
A12V (p.Ala12Val) 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 0.20 / 1. The record also includes population frequency data and structural context.
A12V (p.Ala12Val) variant details
- p.Ala12Val
- TOPMed rs1005573226
- gnomAD rs1005573226
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.08
- CADD 8.31
- PolyPhen-2 0.00
- SIFT 0.34
- Population evidence available
- Structural context available