L212Q (p.Leu212Gln) variant of HSD17B3 (P37058)
L212Q (p.Leu212Gln) in HSD17B3 (P37058) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Differences in sex development. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
L212Q (p.Leu212Gln) variant details
- p.Leu212Gln
- ExAC rs772087477
- TOPMed rs772087477
- gnomAD rs772087477
- Likely pathogenic
- Differences in sex development
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- REVEL 0.86
- AlphaMissense 0.77
- MetaLR 0.89
- MetaSVM 1.04
- CADD 27.10
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Differences in sex development)
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available