T10M (p.Thr10Met) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
T10M (p.Thr10Met) in ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
T10M (p.Thr10Met) variant details
- p.Thr10Met
- rs919184603
- ClinGen CA263573433
- ClinVar RCV001976321
- gnomAD rs919184603
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.07
- CADD 14.20
- PolyPhen-2 0.01
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available