A16S (p.Ala16Ser) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
A16S (p.Ala16Ser) 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 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
A16S (p.Ala16Ser) variant details
- p.Ala16Ser
- gnomAD 14-74493820-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.144
- REVEL 0.07
- CADD 12.30
- PolyPhen-2 0.00
- SIFT 0.49
- Population evidence available
- Structural context available
- Literature evidence available