T13del (p.Thr13del) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
T13del (p.Thr13del) 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 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
T13del (p.Thr13del) variant details
- rs761094131
- gnomAD 14-74493808-GCGA-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.488
- CADD 10.60
- Population evidence available
- Structural context available
- Literature evidence available