V16A (p.Val16Ala) variant of HSD17B3 (P37058)
V16A (p.Val16Ala) in HSD17B3 (P37058) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
V16A (p.Val16Ala) variant details
- p.Val16Ala
- TOPMed rs1190128638
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.36
- MetaLR 0.40
- MetaSVM -0.33
- CADD 21.90
- PolyPhen-2 0.23
- SIFT 0.14
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available