H121R (p.His121Arg) variant of CDK2 (Cyclin-dependent kinase 2)
H121R (p.His121Arg) in CDK2 (Cyclin-dependent kinase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
H121R (p.His121Arg) variant details
- p.His121Arg
- ExAC rs749695697
- gnomAD rs749695697
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.39
- CADD 20.90
- PolyPhen-2 0.09
- SIFT 0.48
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available