P55L (p.Pro55Leu) variant of DBH (Dopamine beta-hydroxylase)
P55L (p.Pro55Leu) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
P55L (p.Pro55Leu) variant details
- p.Pro55Leu
- ExAC rs775127844
- TOPMed rs775127844
- gnomAD rs775127844
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.48
- MetaLR 0.28
- MetaSVM -0.41
- CADD 23.80
- PolyPhen-2 0.69
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available