D6N (p.Asp6Asn) variant of CHEK2 (O96017)
D6N (p.Asp6Asn) in CHEK2 (O96017) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
D6N (p.Asp6Asn) variant details
- p.Asp6Asn
- TOPMed rs1555932944
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.10
- AlphaMissense 0.13
- MetaLR 0.73
- MetaSVM 0.03
- CADD 10.20
- PolyPhen-2 0.68
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available