N145K (p.Asn145Lys) variant of HSD17B3 (P37058)
N145K (p.Asn145Lys) in HSD17B3 (P37058) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
N145K (p.Asn145Lys) variant details
- p.Asn145Lys
- 1000Genomes rs115684579
- ESP rs115684579
- ExAC rs115684579
- TOPMed rs115684579
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.34
- MetaLR 0.58
- MetaSVM -0.21
- CADD 1.49
- PolyPhen-2 0.21
- SIFT 0.12
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available