R6K (p.Arg6Lys) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
R6K (p.Arg6Lys) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
R6K (p.Arg6Lys) variant details
- p.Arg6Lys
- TOPMed rs1406012759
- gnomAD rs1406012759
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.38
- ESM-1b 1.00
- AlphaMissense 0.18
- CADD 18.70
- PolyPhen-2 0.20
- SIFT 0.07
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available