G6V (p.Gly6Val) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
G6V (p.Gly6Val) 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 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
G6V (p.Gly6Val) variant details
- p.Gly6Val
- gnomAD 14-74493791-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.152
- REVEL 0.07
- CADD 15.10
- PolyPhen-2 0.00
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available