G30R (p.Gly30Arg) variant of CHEK2 (O96017)
G30R (p.Gly30Arg) 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 0.43 / 1. The record also includes population frequency data and structural context.
G30R (p.Gly30Arg) variant details
- p.Gly30Arg
- Ensembl rs1555932749
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.33
- CADD 20.90
- PolyPhen-2 0.73
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available