R45Q (p.Arg45Gln) variant of HSD17B3 (P37058)
R45Q (p.Arg45Gln) in HSD17B3 (P37058) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
R45Q (p.Arg45Gln) variant details
- p.Arg45Gln
- cosmic curated COSV10093
- 1000Genomes rs537079694
- ExAC rs537079694
- gnomAD rs537079694
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.20
- MetaLR 0.37
- MetaSVM -0.78
- CADD 3.72
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available