A3V (p.Ala3Val) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
A3V (p.Ala3Val) 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 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A3V (p.Ala3Val) variant details
- p.Ala3Val
- gnomAD 14-74493782-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.02
- CADD 22.30
- PolyPhen-2 0.02
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available