R50L (p.Arg50Leu) variant of AICDA (Q9GZX7)
R50L (p.Arg50Leu) in AICDA (Q9GZX7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
R50L (p.Arg50Leu) variant details
- p.Arg50Leu
- gnomAD 12-8606872-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- REVEL 0.59
- MetaLR 0.43
- MetaSVM -0.25
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available