L11R (p.Leu11Arg) variant of HSD17B3 (P37058)
L11R (p.Leu11Arg) in HSD17B3 (P37058) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
L11R (p.Leu11Arg) variant details
- p.Leu11Arg
- Ensembl rs1827634702
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.33
- MetaLR 0.38
- MetaSVM -0.71
- CADD 11.10
- SIFT 0.18
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available