A2S (p.Ala2Ser) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
A2S (p.Ala2Ser) 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A2S (p.Ala2Ser) variant details
- p.Ala2Ser
- gnomAD 14-74493778-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.07
- CADD 23.90
- PolyPhen-2 0.51
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available