N137D (p.Asn137Asp) variant of HSD17B3 (P37058)
N137D (p.Asn137Asp) in HSD17B3 (P37058) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
N137D (p.Asn137Asp) variant details
- p.Asn137Asp
- gnomAD rs1238875020
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.11
- MetaLR 0.30
- MetaSVM -0.84
- CADD 10.90
- PolyPhen-2 0.02
- SIFT 0.16
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available