L11F (p.Leu11Phe) variant of HSD17B3 (P37058)
L11F (p.Leu11Phe) in HSD17B3 (P37058) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
L11F (p.Leu11Phe) variant details
- p.Leu11Phe
- cosmic curated COSV64557
- TOPMed rs1177857442
- gnomAD rs1177857442
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.13
- MetaLR 0.23
- MetaSVM -0.88
- CADD 1.43
- PolyPhen-2 0.00
- SIFT 0.69
- ClinVar: Likely benign (Inborn genetic diseases)
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available