Q11K (p.Gln11Lys) variant of CHEK2 (O96017)
Q11K (p.Gln11Lys) in CHEK2 (O96017) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
Q11K (p.Gln11Lys) variant details
- p.Gln11Lys
- gnomAD rs1349961118
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.18
- AlphaMissense 0.08
- MetaLR 0.58
- MetaSVM -0.42
- CADD 19.40
- PolyPhen-2 0.02
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available