A36V (p.Ala36Val) variant of DBH (Dopamine beta-hydroxylase)
A36V (p.Ala36Val) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
A36V (p.Ala36Val) variant details
- p.Ala36Val
- gnomAD rs1322194341
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.08
- MetaLR 0.11
- MetaSVM -0.95
- CADD 17.30
- PolyPhen-2 0.02
- SIFT 0.04
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available