K57M (p.Lys57Met) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
K57M (p.Lys57Met) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
K57M (p.Lys57Met) variant details
- p.Lys57Met
- cosmic curated COSV56338
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.68
- ESM-1b 0.00
- AlphaMissense 0.15
- MetaLR 0.75
- MetaSVM 0.52
- CADD 23.50
- Most common in the 1KG:ACB population (allele frequency 0.038)
- Structural context available