A3T (p.Ala3Thr) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
A3T (p.Ala3Thr) 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 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
A3T (p.Ala3Thr) variant details
- p.Ala3Thr
- gnomAD 14-74493781-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.04
- CADD 23.30
- PolyPhen-2 0.10
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available