V34L (p.Val34Leu) variant of DBH (Dopamine beta-hydroxylase)
V34L (p.Val34Leu) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
V34L (p.Val34Leu) variant details
- p.Val34Leu
- ExAC rs764517520
- TOPMed rs764517520
- gnomAD rs764517520
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.06
- MetaLR 0.13
- MetaSVM -0.97
- CADD 21.50
- PolyPhen-2 0.03
- SIFT 0.12
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available