K40R (p.Lys40Arg) variant of SUZ12 (Polycomb protein SUZ12)
K40R (p.Lys40Arg) in SUZ12 (Polycomb protein SUZ12) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
K40R (p.Lys40Arg) variant details
- p.Lys40Arg
- rs1032353170
- ClinGen CA289421321
- ClinVar RCV004461259
- TOPMed rs1032353170
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.20
- MetaLR 0.34
- MetaSVM -0.83
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.68
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00016)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)