R14L (p.Arg14Leu) variant of SDHA (P31040)
R14L (p.Arg14Leu) in SDHA (P31040) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
R14L (p.Arg14Leu) variant details
- p.Arg14Leu
- gnomAD 5-218396-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.22
- CADD 15.60
- PolyPhen-2 0.16
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available