A34V (p.Ala34Val) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
A34V (p.Ala34Val) 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A34V (p.Ala34Val) variant details
- p.Ala34Val
- gnomAD 14-74494079-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.13
- CADD 18.20
- PolyPhen-2 0.00
- SIFT 0.61
- Population evidence available
- Structural context available
- Literature evidence available