A8V (p.Ala8Val) variant of DBH (Dopamine beta-hydroxylase)
A8V (p.Ala8Val) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
A8V (p.Ala8Val) variant details
- p.Ala8Val
- TOPMed rs959727837
- Missense
- Variant Prioritization Score for Impact Estimate 0.111
- REVEL 0.01
- MetaLR 0.08
- MetaSVM -1.01
- CADD 6.71
- PolyPhen-2 0.00
- SIFT 0.21
- Population evidence available
- Structural context available