S14N (p.Ser14Asn) variant of DBH (Dopamine beta-hydroxylase)
S14N (p.Ser14Asn) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
S14N (p.Ser14Asn) variant details
- p.Ser14Asn
- gnomAD 9-133636412-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0972
- REVEL 0.07
- MetaLR 0.10
- MetaSVM -1.00
- CADD 0.81
- PolyPhen-2 0.00
- SIFT 0.28
- Population evidence available
- Structural context available
- Literature evidence available