Q14H (p.Gln14His) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
Q14H (p.Gln14His) 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 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
Q14H (p.Gln14His) variant details
- p.Gln14His
- gnomAD 14-74493816-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0866
- REVEL 0.02
- CADD 4.89
- PolyPhen-2 0.05
- SIFT 0.58
- Population evidence available
- Structural context available
- Literature evidence available