T13R (p.Thr13Arg) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
T13R (p.Thr13Arg) 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 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
T13R (p.Thr13Arg) variant details
- p.Thr13Arg
- gnomAD 14-74493812-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- REVEL 0.07
- CADD 12.50
- PolyPhen-2 0.01
- SIFT 0.43
- Population evidence available
- Structural context available
- Literature evidence available