R16L (p.Arg16Leu) variant of DBH (Dopamine beta-hydroxylase)
R16L (p.Arg16Leu) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
R16L (p.Arg16Leu) variant details
- p.Arg16Leu
- gnomAD 9-133636418-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.28
- MetaLR 0.15
- MetaSVM -0.73
- CADD 22.50
- PolyPhen-2 0.15
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available