P147S (p.Pro147Ser) variant of HSD17B3 (P37058)
P147S (p.Pro147Ser) in HSD17B3 (P37058) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
P147S (p.Pro147Ser) variant details
- p.Pro147Ser
- TOPMed rs1002934063
- gnomAD rs1002934063
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.26
- MetaLR 0.30
- MetaSVM -0.81
- CADD 0.22
- PolyPhen-2 0.01
- SIFT 0.23
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available