D43H (p.Asp43His) variant of SLC6A1 (P30531)
D43H (p.Asp43His) in SLC6A1 (P30531) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
D43H (p.Asp43His) variant details
- p.Asp43His
- ExAC rs764382700
- TOPMed rs764382700
- gnomAD rs764382700
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- REVEL 0.37
- CADD 25.60
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available