A8S (p.Ala8Ser) variant of DBH (Dopamine beta-hydroxylase)
A8S (p.Ala8Ser) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
A8S (p.Ala8Ser) variant details
- p.Ala8Ser
- ExAC rs746061650
- gnomAD rs746061650
- Missense
- Variant Prioritization Score for Impact Estimate 0.0697
- REVEL 0.02
- MetaLR 0.05
- MetaSVM -0.99
- CADD 0.15
- PolyPhen-2 0.00
- SIFT 0.67
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available