R6L (p.Arg6Leu) variant of DBH (Dopamine beta-hydroxylase)
R6L (p.Arg6Leu) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
R6L (p.Arg6Leu) variant details
- p.Arg6Leu
- gnomAD 9-133636388-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.142
- REVEL 0.03
- MetaLR 0.07
- MetaSVM -1.04
- CADD 8.34
- PolyPhen-2 0.02
- SIFT 0.06
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available