S7T (p.Ser7Thr) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
S7T (p.Ser7Thr) 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 0.04 / 1. The record also includes population frequency data, published literature, and structural context.
S7T (p.Ser7Thr) variant details
- p.Ser7Thr
- gnomAD 14-74493793-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0396
- REVEL 0.01
- CADD 2.15
- PolyPhen-2 0.00
- SIFT 0.67
- Population evidence available
- Structural context available
- Literature evidence available