A146S (p.Ala146Ser) variant of HSD17B3 (P37058)
A146S (p.Ala146Ser) in HSD17B3 (P37058) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
A146S (p.Ala146Ser) variant details
- p.Ala146Ser
- 1000Genomes rs779332674
- ExAC rs779332674
- gnomAD rs779332674
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.30
- MetaLR 0.38
- MetaSVM -0.59
- CADD 0.07
- PolyPhen-2 0.00
- SIFT 0.66
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available