F18I (p.Phe18Ile) variant of SDHC (Q99643)
F18I (p.Phe18Ile) in SDHC (Q99643) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
F18I (p.Phe18Ile) variant details
- p.Phe18Ile
- gnomAD 1-161323645-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.18
- MetaLR 0.46
- MetaSVM -0.52
- CADD 20.10
- PolyPhen-2 0.00
- SIFT 0.11
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available