A4V (p.Ala4Val) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
A4V (p.Ala4Val) in ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
A4V (p.Ala4Val) variant details
- p.Ala4Val
- gnomAD rs1214092510
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0993
- REVEL 0.08
- CADD 7.17
- PolyPhen-2 0.00
- SIFT 0.59
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available