A2T (p.Ala2Thr) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
A2T (p.Ala2Thr) 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- gnomAD 14-74493778-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.06
- CADD 24.60
- PolyPhen-2 0.44
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available