D58N (p.Asp58Asn) variant of HSD17B3 (P37058)
D58N (p.Asp58Asn) in HSD17B3 (P37058) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
D58N (p.Asp58Asn) variant details
- p.Asp58Asn
- NCI-TCGA Cosmic COSV1009
- cosmic curated COSV10093
- NCI-TCGA Cosmic COSV6455
- gnomAD rs1827447788
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- REVEL 0.70
- MetaLR 0.83
- MetaSVM 0.81
- CADD 23.40
- PolyPhen-2 0.36
- SIFT 0.19
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available