P19A (p.Pro19Ala) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
P19A (p.Pro19Ala) in ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
P19A (p.Pro19Ala) variant details
- p.Pro19Ala
- ExAC rs769838954
- TOPMed rs769838954
- gnomAD rs769838954
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.03
- CADD 9.72
- PolyPhen-2 0.00
- SIFT 0.14
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available