K33N (p.Lys33Asn) variant of SLC6A1 (P30531)
K33N (p.Lys33Asn) in SLC6A1 (P30531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of SLC6A1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
K33N (p.Lys33Asn) variant details
- p.Lys33Asn
- rs767066259
- ClinGen CA351788174
- ClinVar RCV000997990
- TOPMed rs767066259
- Uncertain significance
- SLC6A1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.11
- CADD 19.60
- PolyPhen-2 0.00
- SIFT 0.38
- ClinVar: Uncertain significance (SLC6A1-related disorder)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available