G2D (p.Gly2Asp) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
G2D (p.Gly2Asp) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
G2D (p.Gly2Asp) variant details
- p.Gly2Asp
- gnomAD 5-119452580-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 14.80
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available