H60Q (p.His60Gln) variant of CDK2 (Cyclin-dependent kinase 2)
H60Q (p.His60Gln) in CDK2 (Cyclin-dependent kinase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
H60Q (p.His60Gln) variant details
- p.His60Gln
- gnomAD 12-55967920-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- REVEL 0.77
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available