R25T (p.Arg25Thr) variant of SDHC (Q99643)
R25T (p.Arg25Thr) in SDHC (Q99643) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
R25T (p.Arg25Thr) variant details
- p.Arg25Thr
- gnomAD 1-161323667-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- REVEL 0.79
- MetaLR 0.92
- MetaSVM 1.05
- CADD 23.90
- PolyPhen-2 0.44
- SIFT 0.09
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available