L33V (p.Leu33Val) variant of DBH (Dopamine beta-hydroxylase)
L33V (p.Leu33Val) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
L33V (p.Leu33Val) variant details
- p.Leu33Val
- gnomAD 9-133636468-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.26
- MetaLR 0.30
- MetaSVM -0.40
- CADD 22.30
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available