Q14L (p.Gln14Leu) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
Q14L (p.Gln14Leu) in ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
Q14L (p.Gln14Leu) variant details
- p.Gln14Leu
- TOPMed rs1443774530
- gnomAD rs1443774530
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.05
- CADD 11.00
- PolyPhen-2 0.00
- SIFT 0.77
- ClinVar: Likely benign (Inborn genetic diseases)
- UniProt: Likely benign
- Population evidence available
- Structural context available