A11S (p.Ala11Ser) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
A11S (p.Ala11Ser) 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 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
A11S (p.Ala11Ser) variant details
- p.Ala11Ser
- gnomAD 14-74493805-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.09
- CADD 14.70
- PolyPhen-2 0.16
- SIFT 0.45
- Population evidence available
- Structural context available
- Literature evidence available