R14Q (p.Arg14Gln) variant of SDHA (P31040)
R14Q (p.Arg14Gln) in SDHA (P31040) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
R14Q (p.Arg14Gln) variant details
- p.Arg14Gln
- gnomAD 5-218396-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.09
- CADD 15.50
- PolyPhen-2 0.00
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available