G39C (p.Gly39Cys) variant of DBH (Dopamine beta-hydroxylase)
G39C (p.Gly39Cys) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
G39C (p.Gly39Cys) variant details
- p.Gly39Cys
- gnomAD 9-133636486-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.29
- MetaLR 0.29
- MetaSVM -0.44
- CADD 24.20
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available