S14A (p.Ser14Ala) variant of DBH (Dopamine beta-hydroxylase)
S14A (p.Ser14Ala) in DBH (Dopamine beta-hydroxylase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
S14A (p.Ser14Ala) variant details
- p.Ser14Ala
- gnomAD 9-133636406-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.636
- CADD 21.50
- Population evidence available
- Structural context available
- Literature evidence available