I53V (p.Ile53Val) variant of HSD17B3 (P37058)
I53V (p.Ile53Val) in HSD17B3 (P37058) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
I53V (p.Ile53Val) variant details
- p.Ile53Val
- ExAC rs550421995
- gnomAD rs550421995
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.44
- MetaLR 0.32
- MetaSVM -0.64
- CADD 8.83
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available