G22S (p.Gly22Ser) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
G22S (p.Gly22Ser) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes structural context.
G22S (p.Gly22Ser) variant details
- p.Gly22Ser
- cosmic curated COSV56333
- Missense
- Variant Prioritization Score for Impact Estimate 0.927
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.99
- MetaSVM 1.00
- SIFT 0.48
- Structural context available