A3S (p.Ala3Ser) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
A3S (p.Ala3Ser) 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 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
A3S (p.Ala3Ser) variant details
- p.Ala3Ser
- gnomAD 14-74493781-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.03
- CADD 19.60
- PolyPhen-2 0.02
- SIFT 0.31
- Population evidence available
- Structural context available
- Literature evidence available