A2V (p.Ala2Val) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
A2V (p.Ala2Val) in ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- ExAC rs777458795
- TOPMed rs777458795
- gnomAD rs777458795
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.10
- CADD 24.00
- PolyPhen-2 0.03
- SIFT 0.01
- Population evidence available
- Structural context available