V17A (p.Val17Ala) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
V17A (p.Val17Ala) 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 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
V17A (p.Val17Ala) variant details
- p.Val17Ala
- gnomAD 14-74493824-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.114
- REVEL 0.02
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available