R24S (p.Arg24Ser) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
R24S (p.Arg24Ser) 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 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
R24S (p.Arg24Ser) variant details
- p.Arg24Ser
- gnomAD 14-74494050-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.50
- CADD 23.60
- PolyPhen-2 0.33
- SIFT 0.61
- Population evidence available
- Structural context available
- Literature evidence available