S5C (p.Ser5Cys) variant of DBH (Dopamine beta-hydroxylase)
S5C (p.Ser5Cys) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
S5C (p.Ser5Cys) variant details
- p.Ser5Cys
- ExAC rs778274517
- gnomAD rs778274517
- Missense
- Variant Prioritization Score for Impact Estimate 0.0669
- REVEL 0.01
- MetaLR 0.06
- MetaSVM -1.02
- CADD 2.29
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available