P140Q (p.Pro140Gln) variant of HSD17B3 (P37058)
P140Q (p.Pro140Gln) in HSD17B3 (P37058) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
P140Q (p.Pro140Gln) variant details
- p.Pro140Gln
- ESP rs146271877
- ExAC rs146271877
- TOPMed rs146271877
- gnomAD rs146271877
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- REVEL 0.68
- MetaLR 0.76
- MetaSVM 0.56
- CADD 23.70
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available