L16R (p.Leu16Arg) variant of SDHA (P31040)
L16R (p.Leu16Arg) in SDHA (P31040) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
L16R (p.Leu16Arg) variant details
- p.Leu16Arg
- gnomAD 5-218402-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.17
- CADD 19.10
- PolyPhen-2 0.00
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available