A36S (p.Ala36Ser) variant of DBH (Dopamine beta-hydroxylase)
A36S (p.Ala36Ser) in DBH (Dopamine beta-hydroxylase) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
A36S (p.Ala36Ser) variant details
- p.Ala36Ser
- NCI-TCGA Cosmic COSV5504
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.05
- MetaLR 0.10
- MetaSVM -0.93
- CADD 17.00
- PolyPhen-2 0.06
- SIFT 1.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available