N157D (p.Asn157Asp) variant of HSD17B3 (P37058)
N157D (p.Asn157Asp) in HSD17B3 (P37058) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
N157D (p.Asn157Asp) variant details
- p.Asn157Asp
- ExAC rs779419888
- gnomAD rs779419888
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- REVEL 0.91
- MetaLR 0.95
- MetaSVM 1.09
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available