K5R (p.Lys5Arg) variant of SUZ12 (Polycomb protein SUZ12)
K5R (p.Lys5Arg) in SUZ12 (Polycomb protein SUZ12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
K5R (p.Lys5Arg) variant details
- p.Lys5Arg
- TOPMed rs1192634536
- gnomAD rs1192634536
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.06
- MetaLR 0.10
- MetaSVM -0.89
- CADD 24.30
- PolyPhen-2 0.04
- SIFT 0.16
- Most common in the REMAINING population (allele frequency 3.9e-05)
- Structural context available