A25V (p.Ala25Val) variant of DBH (Dopamine beta-hydroxylase)
A25V (p.Ala25Val) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
A25V (p.Ala25Val) variant details
- p.Ala25Val
- gnomAD rs1465499287
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.04
- MetaLR 0.10
- MetaSVM -1.01
- CADD 14.60
- PolyPhen-2 0.01
- SIFT 0.39
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available