K37Q (p.Lys37Gln) variant of HSD17B3 (P37058)
K37Q (p.Lys37Gln) in HSD17B3 (P37058) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
K37Q (p.Lys37Gln) variant details
- p.Lys37Gln
- 1000Genomes rs781518300
- ExAC rs781518300
- gnomAD rs781518300
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.20
- MetaLR 0.40
- MetaSVM -0.78
- CADD 2.72
- PolyPhen-2 0.00
- SIFT 0.43
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available