A11T (p.Ala11Thr) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
A11T (p.Ala11Thr) 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 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A11T (p.Ala11Thr) variant details
- p.Ala11Thr
- gnomAD 14-74493805-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.15
- CADD 15.70
- PolyPhen-2 0.12
- SIFT 0.42
- Population evidence available
- Structural context available
- Literature evidence available