L30Q (p.Leu30Gln) variant of DBH (Dopamine beta-hydroxylase)
L30Q (p.Leu30Gln) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
L30Q (p.Leu30Gln) variant details
- p.Leu30Gln
- ExAC rs762462999
- gnomAD rs762462999
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.32
- MetaLR 0.25
- MetaSVM -0.54
- CADD 27.40
- PolyPhen-2 0.64
- SIFT 0.04
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available