A4S (p.Ala4Ser) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
A4S (p.Ala4Ser) 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 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
A4S (p.Ala4Ser) variant details
- p.Ala4Ser
- gnomAD 14-74493784-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0951
- REVEL 0.08
- CADD 5.51
- PolyPhen-2 0.00
- SIFT 0.73
- Population evidence available
- Structural context available
- Literature evidence available