L16Q (p.Leu16Gln) variant of SDHA (P31040)
L16Q (p.Leu16Gln) 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.
L16Q (p.Leu16Gln) variant details
- p.Leu16Gln
- gnomAD 5-218402-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.14
- CADD 18.90
- PolyPhen-2 0.00
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available