T27M (p.Thr27Met) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
T27M (p.Thr27Met) 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 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
T27M (p.Thr27Met) variant details
- p.Thr27Met
- gnomAD 14-74494058-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.05
- CADD 17.80
- PolyPhen-2 0.00
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available