R6P (p.Arg6Pro) variant of DBH (Dopamine beta-hydroxylase)
R6P (p.Arg6Pro) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
R6P (p.Arg6Pro) variant details
- p.Arg6Pro
- gnomAD 9-133636388-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.15
- MetaLR 0.05
- MetaSVM -1.06
- CADD 9.44
- PolyPhen-2 0.11
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available