S7R (p.Ser7Arg) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
S7R (p.Ser7Arg) in ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial) is a protein-truncating 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.
S7R (p.Ser7Arg) variant details
- p.Ser7Arg
- rs950263114
- gnomAD 14-74493787-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.248
- CADD 23.60
- Population evidence available
- Structural context available
- Literature evidence available