R94L (p.Arg94Leu) variant of HSD17B3 (P37058)
R94L (p.Arg94Leu) in HSD17B3 (P37058) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
R94L (p.Arg94Leu) variant details
- p.Arg94Leu
- 1000Genomes rs539588932
- ExAC rs539588932
- gnomAD rs539588932
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.16
- MetaLR 0.60
- MetaSVM -0.38
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.45
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available