P42S (p.Pro42Ser) variant of DBH (Dopamine beta-hydroxylase)
P42S (p.Pro42Ser) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
P42S (p.Pro42Ser) variant details
- p.Pro42Ser
- Ensembl rs1832054060
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.21
- MetaLR 0.18
- MetaSVM -0.82
- CADD 18.70
- PolyPhen-2 0.74
- SIFT 0.15
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available