A28V (p.Ala28Val) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
A28V (p.Ala28Val) in ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
A28V (p.Ala28Val) variant details
- p.Ala28Val
- rs371830968
- ClinGen CA7268264
- ClinVar RCV002127125
- ClinVar RCV003903382
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.02
- CADD 18.70
- PolyPhen-2 0.00
- SIFT 0.19
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available