N74D (p.Asn74Asp) variant of HSD17B3 (P37058)
N74D (p.Asn74Asp) in HSD17B3 (P37058) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
N74D (p.Asn74Asp) variant details
- p.Asn74Asp
- TOPMed rs1825569984
- gnomAD rs1825569984
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.28
- MetaLR 0.48
- MetaSVM -0.32
- CADD 6.93
- PolyPhen-2 0.02
- SIFT 0.17
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available