A16T (p.Ala16Thr) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
A16T (p.Ala16Thr) in ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
A16T (p.Ala16Thr) variant details
- p.Ala16Thr
- NCI-TCGA Cosmic COSV5314
- cosmic curated COSV53143
- TOPMed rs2086810771
- gnomAD rs2086810771
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- REVEL 0.09
- CADD 14.00
- PolyPhen-2 0.00
- SIFT 0.38
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available