A27V (p.Ala27Val) variant of DBH (Dopamine beta-hydroxylase)
A27V (p.Ala27Val) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
A27V (p.Ala27Val) variant details
- p.Ala27Val
- gnomAD 9-133636451-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.13
- MetaLR 0.22
- MetaSVM -0.75
- CADD 23.70
- PolyPhen-2 0.83
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available