L18Q (p.Leu18Gln) variant of HSD17B3 (P37058)
L18Q (p.Leu18Gln) in HSD17B3 (P37058) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes structural context.
L18Q (p.Leu18Gln) variant details
- p.Leu18Gln
- rs2490210603
- ClinGen CA374126672
- ClinVar RCV003566605
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available