G20V (p.Gly20Val) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
G20V (p.Gly20Val) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
G20V (p.Gly20Val) variant details
- p.Gly20Val
- gnomAD 5-119456315-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.79
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.89
- MetaLR 0.58
- MetaSVM -0.04
- CADD 33.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available
- Literature evidence available