N137K (p.Asn137Lys) variant of HSD17B3 (P37058)
N137K (p.Asn137Lys) in HSD17B3 (P37058) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
N137K (p.Asn137Lys) variant details
- p.Asn137Lys
- TOPMed rs1825406959
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.21
- MetaLR 0.38
- MetaSVM -0.62
- CADD 14.50
- PolyPhen-2 0.19
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available