Y22H (p.Tyr22His) variant of DBH (Dopamine beta-hydroxylase)
Y22H (p.Tyr22His) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
Y22H (p.Tyr22His) variant details
- p.Tyr22His
- ExAC rs776539329
- TOPMed rs776539329
- gnomAD rs776539329
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.42
- MetaLR 0.32
- MetaSVM -0.36
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available