S14R (p.Ser14Arg) variant of DBH (Dopamine beta-hydroxylase)
S14R (p.Ser14Arg) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
S14R (p.Ser14Arg) variant details
- p.Ser14Arg
- gnomAD 9-133636413-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0786
- REVEL 0.04
- MetaLR 0.06
- MetaSVM -1.03
- CADD 0.93
- PolyPhen-2 0.00
- SIFT 0.61
- Population evidence available
- Structural context available
- Literature evidence available