P2S (p.Pro2Ser) variant of DBH (Dopamine beta-hydroxylase)
P2S (p.Pro2Ser) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
P2S (p.Pro2Ser) variant details
- p.Pro2Ser
- gnomAD 9-133636375-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.07
- CADD 6.16
- PolyPhen-2 0.01
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available