P55R (p.Pro55Arg) variant of DBH (Dopamine beta-hydroxylase)
P55R (p.Pro55Arg) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
P55R (p.Pro55Arg) variant details
- p.Pro55Arg
- ExAC rs775127844
- TOPMed rs775127844
- gnomAD rs775127844
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- REVEL 0.51
- MetaLR 0.36
- MetaSVM -0.27
- CADD 24.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available