Y22N (p.Tyr22Asn) variant of DBH (Dopamine beta-hydroxylase)
Y22N (p.Tyr22Asn) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
Y22N (p.Tyr22Asn) variant details
- p.Tyr22Asn
- gnomAD 9-133636435-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- REVEL 0.55
- MetaLR 0.32
- MetaSVM -0.36
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available