A12T (p.Ala12Thr) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
A12T (p.Ala12Thr) 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 0.21 / 1. The record also includes population frequency data and structural context.
A12T (p.Ala12Thr) variant details
- p.Ala12Thr
- Ensembl rs868097207
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.02
- CADD 8.24
- PolyPhen-2 0.04
- SIFT 0.28
- Population evidence available
- Structural context available