S141N (p.Ser141Asn) variant of HSD17B3 (P37058)
S141N (p.Ser141Asn) in HSD17B3 (P37058) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
S141N (p.Ser141Asn) variant details
- p.Ser141Asn
- TOPMed rs1211043907
- gnomAD rs1211043907
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.24
- MetaLR 0.53
- MetaSVM -0.30
- CADD 15.40
- PolyPhen-2 0.63
- SIFT 0.12
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available