F18Y (p.Phe18Tyr) variant of SDHC (Q99643)
F18Y (p.Phe18Tyr) in SDHC (Q99643) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
F18Y (p.Phe18Tyr) variant details
- p.Phe18Tyr
- gnomAD rs1228455705
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.34
- MetaLR 0.61
- MetaSVM -0.01
- CADD 21.20
- PolyPhen-2 0.02
- SIFT 0.17
- Population evidence available
- Structural context available