L7Q (p.Leu7Gln) variant of SDHA (P31040)
L7Q (p.Leu7Gln) in SDHA (P31040) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
L7Q (p.Leu7Gln) variant details
- p.Leu7Gln
- gnomAD 5-218375-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- REVEL 0.05
- CADD 21.30
- PolyPhen-2 0.01
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available