R38L (p.Arg38Leu) variant of SDHD (O14521)
R38L (p.Arg38Leu) in SDHD (O14521) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
R38L (p.Arg38Leu) variant details
- p.Arg38Leu
- gnomAD 11-112087917-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.48
- CADD 14.60
- PolyPhen-2 0.00
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available