L9Q (p.Leu9Gln) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
L9Q (p.Leu9Gln) in ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
L9Q (p.Leu9Gln) variant details
- p.Leu9Gln
- TOPMed rs1044687761
- gnomAD rs1044687761
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.06
- CADD 15.00
- PolyPhen-2 0.06
- SIFT 0.10
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available