S65W (p.Ser65Trp) variant of HSD17B3 (P37058)
S65W (p.Ser65Trp) in HSD17B3 (P37058) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic in the context of in MPH. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
S65W (p.Ser65Trp) variant details
- p.Ser65Trp
- ExAC rs747329682
- TOPMed rs747329682
- gnomAD rs747329682
- Likely pathogenic
- in MPH
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- REVEL 0.55
- MetaLR 0.78
- MetaSVM 0.21
- CADD 23.60
- PolyPhen-2 0.93
- SIFT 0.00
- EBI: Likely pathogenic (in MPH)
- UniProt: Likely pathogenic (in MPH)
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available