L21P (p.Leu21Pro) variant of HSD17B3 (P37058)
L21P (p.Leu21Pro) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
L21P (p.Leu21Pro) variant details
- p.Leu21Pro
- rs1238780362
- ClinGen CA374126653
- ClinVar RCV001976927
- TOPMed rs1238780362
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- REVEL 0.75
- MetaLR 0.70
- MetaSVM 0.46
- CADD 25.60
- PolyPhen-2 0.90
- SIFT 0.16
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available