A105G (p.Ala105Gly) variant of HSD17B3 (P37058)
A105G (p.Ala105Gly) in HSD17B3 (P37058) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
A105G (p.Ala105Gly) variant details
- p.Ala105Gly
- ExAC rs775606025
- gnomAD rs775606025
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- REVEL 0.57
- MetaLR 0.75
- MetaSVM 0.59
- CADD 23.80
- PolyPhen-2 0.92
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available