L9P (p.Leu9Pro) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
L9P (p.Leu9Pro) 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 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
L9P (p.Leu9Pro) variant details
- p.Leu9Pro
- gnomAD 14-74493800-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.08
- CADD 15.80
- PolyPhen-2 0.10
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available