W42R (p.Trp42Arg) variant of SDHC (Q99643)
W42R (p.Trp42Arg) in SDHC (Q99643) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
W42R (p.Trp42Arg) variant details
- p.Trp42Arg
- gnomAD 1-161328442-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- REVEL 0.87
- MetaLR 0.97
- MetaSVM 1.10
- CADD 28.40
- PolyPhen-2 0.88
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available