L9V (p.Leu9Val) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
L9V (p.Leu9Val) 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 0.04 / 1. The record also includes population frequency data and structural context.
L9V (p.Leu9Val) variant details
- p.Leu9Val
- TOPMed rs1478129518
- gnomAD rs1478129518
- Missense
- Variant Prioritization Score for Impact Estimate 0.0427
- REVEL 0.02
- CADD 0.47
- PolyPhen-2 0.00
- SIFT 0.87
- Population evidence available
- Structural context available