P11S (p.Pro11Ser) variant of DBH (Dopamine beta-hydroxylase)
P11S (p.Pro11Ser) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
P11S (p.Pro11Ser) variant details
- p.Pro11Ser
- ExAC rs770187471
- TOPMed rs770187471
- gnomAD rs770187471
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.02
- MetaLR 0.08
- MetaSVM -1.06
- CADD 17.60
- PolyPhen-2 0.20
- SIFT 0.02
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available