R5L (p.Arg5Leu) variant of SDHA (P31040)
R5L (p.Arg5Leu) in SDHA (P31040) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
R5L (p.Arg5Leu) variant details
- p.Arg5Leu
- gnomAD 5-218369-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.06
- CADD 7.16
- PolyPhen-2 0.00
- SIFT 0.75
- Population evidence available
- Structural context available
- Literature evidence available