R15S (p.Arg15Ser) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
R15S (p.Arg15Ser) 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 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
R15S (p.Arg15Ser) variant details
- p.Arg15Ser
- gnomAD 14-74493819-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.111
- REVEL 0.08
- CADD 13.40
- PolyPhen-2 0.03
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available