F53S (p.Phe53Ser) variant of SLC6A1 (P30531)
F53S (p.Phe53Ser) in SLC6A1 (P30531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes structural context.
F53S (p.Phe53Ser) variant details
- p.Phe53Ser
- rs1697195703
- ClinGen CA351788301
- ClinVar RCV001268606
- Ensembl rs1697195703
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- AlphaMissense 1.00
- MetaLR 0.72
- MetaSVM 0.65
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.67
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available