A12S (p.Ala12Ser) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
A12S (p.Ala12Ser) 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 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
A12S (p.Ala12Ser) variant details
- p.Ala12Ser
- gnomAD 14-74493808-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.01
- CADD 4.05
- PolyPhen-2 0.01
- SIFT 0.59
- Population evidence available
- Structural context available
- Literature evidence available