R25K (p.Arg25Lys) variant of SDHC (Q99643)
R25K (p.Arg25Lys) in SDHC (Q99643) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
R25K (p.Arg25Lys) variant details
- p.Arg25Lys
- gnomAD 1-161323667-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- REVEL 0.70
- MetaLR 0.90
- MetaSVM 0.99
- CADD 22.40
- PolyPhen-2 0.04
- SIFT 0.38
- Population evidence available
- Structural context available
- Literature evidence available