S7L (p.Ser7Leu) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
S7L (p.Ser7Leu) 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 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
S7L (p.Ser7Leu) variant details
- p.Ser7Leu
- gnomAD 14-74493794-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0711
- REVEL 0.02
- CADD 10.00
- PolyPhen-2 0.00
- SIFT 0.57
- Population evidence available
- Structural context available
- Literature evidence available