N131H (p.Asn131His) variant of HSD17B3 (P37058)
N131H (p.Asn131His) in HSD17B3 (P37058) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
N131H (p.Asn131His) variant details
- p.Asn131His
- ExAC rs772902740
- TOPMed rs772902740
- gnomAD rs772902740
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- REVEL 0.90
- MetaLR 0.95
- MetaSVM 1.06
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available