Q14K (p.Gln14Lys) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
Q14K (p.Gln14Lys) 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 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
Q14K (p.Gln14Lys) variant details
- p.Gln14Lys
- gnomAD 14-74493814-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.13
- CADD 2.18
- PolyPhen-2 0.01
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available