R24K (p.Arg24Lys) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
R24K (p.Arg24Lys) 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 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
R24K (p.Arg24Lys) variant details
- p.Arg24Lys
- gnomAD 14-74493845-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.09
- CADD 33.00
- PolyPhen-2 0.30
- SIFT 0.72
- Population evidence available
- Structural context available
- Literature evidence available